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-- Agreement leverages Sareptas leadership in gene therapy for neuromuscular and cardiovascular diseases and Dynos CapsidMap artificial intelligence platform to design AAV vectors --

CAMBRIDGE, Mass., May 11, 2020 (GLOBE NEWSWIRE) -- Sarepta Therapeutics, Inc.(NASDAQ:SRPT), the leader in precision genetic medicine for rare diseases, and Dyno Therapeutics, Inc., a biotech company applying artificial intelligence (AI) to gene therapy, today announced an agreement to develop next-generation Adeno-Associated Virus (AAV) vectors for muscle diseases, using Dynos CapsidMap platform.

AI and machine learning technologies have the potential to deliver enhanced vectors for gene therapies. Dynos proprietary CapsidMap platform opens up new ways to identify novel capsids the cell-targeting protein shell of viral vectors that could offer improved muscle targeting and immune-evading properties, in addition to advantages in packaging and manufacturing.

Sareptas world-leading gene therapy engine is founded on three pillars: developing a broad portfolio of programs to treat rare diseases; our first-in-class manufacturing expertise; and investment in advancing and further improving the science of gene therapy to help patients in need of more options. To that end, our agreement with Dyno provides us with another valuable tool to develop next-generation capsids for gene therapies to treat rare diseases, said Doug Ingram, Sareptas President and Chief Executive Officer. By leveraging Dynos AI platform and Sareptas deep expertise in gene therapy development, our goal is to advance next-generation treatments with improved muscle-targeting capabilities.

Under the terms of the agreement, Dyno will be responsible for the design and discovery of novel AAV capsids with improved functional properties for gene therapy and Sarepta will be responsible for conducting preclinical, clinical and commercialization activities for gene therapy product candidates using the novel capsids. If successful, Dyno could receive over $40 million in upfront, option and license payments during the research phase of the collaboration. Additionally, if Sarepta develops and commercializes multiple candidates for multiple muscle diseases, Dyno will be eligible for additional significant future milestone payments. Dyno will also receive royalties on worldwide net sales of any commercial products developed through the collaboration.

This agreement is a major step forward in our plan to realize the potential of Dynos AI platform for gene therapies to improve patient health. We are excited to work with Sarepta to create gene therapies with improved properties to address a range of muscle-related diseases, stated Dynos CEO and co-founder Eric D. Kelsic, Ph.D. The success of the gene therapies developed through this collaboration with Sarepta will rely on AI-powered vectors that allow gene therapies to be safely and precisely targeted to the muscle tissue.

About CapsidMap for Designing AAV Gene Therapies By designing capsids that confer improved functional properties to Adeno-Associated Virus (AAV)vectors, Dynos proprietary CapsidMap platform overcomes the limitations of todays gene therapies on the market and in development. Todays treatments are primarily confined to a small number of naturally occurring AAV vectors that are limited by delivery, immunity, packaging size, and manufacturing challenges. CapsidMap uses artificial intelligence (AI) technology for the design of novel capsids, the cell-targeting protein shell of viral vectors. The CapsidMap platform applies leading-edge DNA library synthesis and next-generation DNA sequencing to measure invivo gene delivery properties in high throughput. At the core of CapsidMap are advanced search algorithms leveraging machine learning and Dynos massive quantities of experimental data, that together build a comprehensive map of sequence space and thereby accelerate the discovery and optimization of synthetic AAV capsids.

Dynos technology platform builds on certain intellectual property developed in the lab of George Church, Ph.D., who is Robert Winthrop Professor of Genetics at Harvard Medical School (HMS), a Core Faculty member at Harvards Wyss Institute for Biologically Inspired Engineering, and a co-founder of Dyno. Several of the technical breakthroughs that enabled Dynos approach to optimize synthetic AAV capsid engineering were described in a November 2019 publication in the journal Science, based on work conducted by Dyno founders and members of the Church Lab at HMS and the Wyss Institute. Dyno has an exclusive option to enter into a license agreement with Harvard University for this technology.

About Dyno TherapeuticsDyno Therapeutics is a pioneer in applying artificial intelligence (AI) and quantitative high-throughput in vivo experimentation to gene therapy. The companys proprietary CapsidMap platform is designed to rapidly discover and systematically optimize superior Adeno-Associated Virus (AAV) capsid vectors with delivery properties that significantly improve upon current approaches to gene therapy and expand the range of diseases treatable with gene therapies. Dyno was founded in 2018 by experienced biotech entrepreneurs and leading scientists in the fields of gene therapy and machine learning. The company is located in Cambridge, Massachusetts. Visit http://www.dynotx.com for additional information.

AboutSarepta TherapeuticsAt Sarepta, we are leading a revolution in precision genetic medicine and every day is an opportunity to change the lives of people living with rare disease. The Company has built an impressive position in Duchenne muscular dystrophy (DMD) and in gene therapies for limb-girdle muscular dystrophies (LGMDs), mucopolysaccharidosis type IIIA, Charcot-Marie-Tooth (CMT), and other CNS-related disorders, with more than 40 programs in various stages of development. The Companys programs and research focus span several therapeutic modalities, including RNA, gene therapy and gene editing. For more information, please visitwww.sarepta.com or follow us on Twitter, LinkedIn, Instagram and Facebook.

Sarepta Therapeutics Forward-looking StatementsThis press release contains "forward-looking statements." Any statements contained in this press release that are not statements of historical fact may be deemed to be forward-looking statements. Words such as "believes," "anticipates," "plans," "expects," "will," "intends," "potential," "possible" and similar expressions are intended to identify forward-looking statements. These forward-looking statements include statements regarding the potential of artificial intelligence and machine learning technologies to deliver enhanced vectors for gene therapies; the potential of the CapsidMap platform to offer improved muscle targeting and immune-evading properties, in addition to advantages in packaging and manufacturing; the agreement between Sarepta and Dyno Therapeutics providing a valuable tool to develop next-generation capsids for gene therapies to treat rare disease; the parties goal to advance next-generation treatments with improved muscle-targeting capabilities; the parties responsibilities under the agreement and potential payments to Dyno Therapeutics; and the potential of AI-powered vectors to allow gene therapies to be safely and precisely targeted to the muscle tissue.

These forward-looking statements involve risks and uncertainties, many of which are beyond Sareptas control. Known risk factors include, among others: the expected benefits and opportunities related to the collaboration between Sarepta and Dyno Therapeutics may not be realized or may take longer to realize than expected due to challenges and uncertainties inherent in product research and development. In particular, the collaboration may not result in any viable treatments suitable for commercialization due to a variety of reasons, including any inability of the parties to perform their commitments and obligations under the agreement; the results of research may not be consistent with past results or may not be positive or may otherwise fail to meet regulatory approval requirements for the safety and efficacy of product candidates; possible limitations of company financial and other resources; manufacturing limitations that may not be anticipated or resolved for in a timely manner; regulatory, court or agency decisions, such as decisions by the United States Patent and Trademark Office with respect to patents that cover Sareptas product candidates; and those risks identified under the heading Risk Factors in Sareptas most recent Annual Report on Form 10-K for the year ended December 31, 2019 and most recent Quarterly Report on Form 10-Q filed with the Securities and Exchange Commission (SEC) as well as other SEC filings made by the Company which you are encouraged to review.

Any of the foregoing risks could materially and adversely affect the Companys business, results of operations and the trading price of Sareptas common stock. For a detailed description of risks and uncertainties Sarepta faces, you are encouraged to review Sarepta's 2019 Annual Report on Form 10-K and most recent Quarterly Report on Form 10-Q filed with the SEC as well as other SEC filings made by Sarepta. We caution investors not to place considerable reliance on the forward-looking statements contained in this press release. Sarepta does not undertake any obligation to publicly update its forward-looking statements based on events or circumstances after the date hereof.

ContactsFor Sarepta: Investors: Ian Estepan, 617-274-4052, iestepan@sarepta.comMedia: Tracy Sorrentino, 617-301-8566, tsorrentino@sarepta.com

For Dyno:Kathryn MorrisThe Yates Networkkathryn@theyatenetwork.com914-204-6412

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Sarepta Therapeutics and Dyno Therapeutics Announce Agreement to Develop Next-Generation Gene Therapy Vectors for Muscle Diseases - GlobeNewswire

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Approach may lead to new treatment approach for osteoarthritis, obesity

Researchers at Washington University School of Medicine in St. Louis found that gene therapy in mice helped build strength and significant muscle mass quickly, while reducing the severity of osteoarthritis. The gene therapy also prevented obesity, even when the mice were fed a high-fat diet.

Exercise and physical therapy often are recommended to help people who have arthritis. Both can strengthen muscle a benefit that also can reduce joint pain. But building muscle mass and strength can take many months and be difficult in the face of joint pain from osteoarthritis, particularly for older people who are overweight. A new study in mice at Washington University School of Medicine in St. Louis, however, suggests gene therapy one day may help those patients.

The research shows that gene therapy helped build significant muscle mass quickly and reduced the severity of osteoarthritis in the mice, even though they didnt exercise more. The therapy also staved off obesity, even when the mice ate an extremely high-fat diet.

The study is published online May 8 in the journal Science Advances.

Obesity is the most common risk factor for osteoarthritis, said senior investigator Farshid Guilak, PhD, the Mildred B. Simon Research Professor of Orthopaedic Surgery and director of research at Shriners Hospitals for Children St. Louis. Being overweight can hinder a persons ability to exercise and benefit fully from physical therapy. Weve identified here a way to use gene therapy to build muscle quickly. It had a profound effect in the mice and kept their weight in check, suggesting a similar approach may be effective against arthritis, particularly in cases of morbid obesity.

With the papers first author, Ruhang Tang, PhD, a senior scientist in Guilaks laboratory, Guilak and his research team gave 8-week-old mice a single injection each of a virus carrying a gene called follistatin. The gene works to block the activity of a protein in muscle that keeps muscle growth in check. This enabled the mice to gain significant muscle mass without exercising more than usual.

Even without additional exercise, and while continuing to eat a high-fat diet, the muscle mass of these super mice more than doubled, and their strength nearly doubled, too. The mice also had less cartilage damage related to osteoarthritis, lower numbers of inflammatory cells and proteins in their joints, fewer metabolic problems, and healthier hearts and blood vessels than littermates that did not receive the gene therapy. The mice also were significantly less sensitive to pain.

One worry was that some of the muscle growth prompted by the gene therapy might turn out to be harmful. The heart, for example, is a muscle, and a condition called cardiac hypertrophy, in which the hearts walls thicken, is not a good thing. But in these mice, heart function actually improved, as did cardiovascular health in general.

Longer-term studies will be needed to determine the safety of this type of gene therapy. But, if safe, the strategy could be particularly beneficial for patients with conditions such as muscular dystrophy that make it difficult to build new muscle.

In the meantime, Guilak, who also co-directs the Washington University Center for Regenerative Medicine and is a professor of biomedical engineering and of developmental biology, said more traditional methods of muscle strengthening, such as lifting weights or physical therapy, remain the first line of treatment for patients with osteoarthritis.

Something like this could take years to develop, but were excited about its prospects for reducing joint damage related to osteoarthritis, as well as possibly being useful in extreme cases of obesity, he said.

Tang R, Harasymowicz NS, Wu CL, Collins KH, Choi YR, Oswald SJ, Guilak F. Gene therapy for follistatin mitigates systemic metabolic inflammation and post-traumatic arthritis in high-fat diet-induced obesity. Science Advances, published online May 8, 2020.

This work was supported by the Shriners Hospitals for Children, the National Institute of Arthritis and Musculoskeletal and Skin Diseases, the National Institute on Aging and the Office of the Director of the National Institutes of Health (NIH). Grant numbers AR50245, AR48852, AG15768, AR48182, AG 46927, AR073752, OD10707, AR060719, AR057235. Additional funding was provided by the Arthritis Foundation and the Nancy Taylor Foundation for Chronic Diseases.

Washington University School of Medicines 1,500 faculty physicians also are the medical staff of Barnes-Jewish and St. Louis Childrens hospitals. The School of Medicine is a leader in medical research, teaching and patient care, ranking among the top 10 medical schools in the nation by U.S. News & World Report. Through its affiliations with Barnes-Jewish and St. Louis Childrens hospitals, the School of Medicine is linked to BJC HealthCare.

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Gene therapy in mice builds muscle, reduces fat Washington University School of Medicine in St. Louis - Washington University School of Medicine in...

ZUG, Switzerland and CAMBRIDGE, Mass. and BOSTON, May 14, 2020 (GLOBE NEWSWIRE) -- CRISPR Therapeutics (Nasdaq: CRSP) and Vertex Pharmaceuticals Incorporated (Nasdaq: VRTX) today announced that new data from two ongoing Phase 1/2 clinical trials of the CRISPR/Cas9 gene-editing therapy CTX001 in severe hemoglobinopathies have been accepted for an oral presentation at the EHA Congress, which will take place virtually from June 11-14, 2020.

An abstract posted online today includes 12 months of follow-up data for the first patient treated in the ongoing Phase 1/2 CLIMB-111 trial in transfusion-dependent beta thalassemia (TDT) and 6 months of follow-up data for the first patient treated in the ongoing Phase 1/2 CLIMB-121 trial in severe sickle cell disease (SCD). Updated data will be presented at EHA, including longer duration follow-up data for the first two patients treated in these trials and initial data for the second patient treated in the CLIMB-111 trial.

The accepted abstract is now available on the EHA conference website: https://ehaweb.org/congress/eha25/key-information-2/.

Abstract Title: Initial Safety and Efficacy Results With a Single Dose of Autologous CRISPR-Cas9 Modified CD34+ Hematopoietic Stem and Progenitor Cells in Transfusion-Dependent -Thalassemia and Sickle Cell DiseaseSession Title: Immunotherapy - ClinicalAbstract Code: S280

About the Phase 1/2 Study in Transfusion-Dependent Beta ThalassemiaThe ongoing Phase 1/2 open-label trial, CLIMB-Thal-111, is designed to assess the safety and efficacy of a single dose of CTX001 in patients ages 18 to 35 with TDT. The study will enroll up to 45 patients and follow patients for approximately two years after infusion. Each patient will be asked to participate in a long-term follow-up study.

About the Phase 1/2 Study in Sickle Cell DiseaseThe ongoing Phase 1/2 open-label trial, CLIMB-SCD-121, is designed to assess the safety and efficacy of a single dose of CTX001 in patients ages 18 to 35 with severe SCD. The study will enroll up to 45 patients and follow patients for approximately two years after infusion. Each patient will be asked to participate in a long-term follow-up study.

About CTX001CTX001 is an investigational ex vivo CRISPR gene-edited therapy that is being evaluated for patients suffering from TDT or severe SCD in which a patients hematopoietic stem cells are engineered to produce high levels of fetal hemoglobin (HbF; hemoglobin F) in red blood cells. HbF is a form of the oxygen-carrying hemoglobin that is naturally present at birth and is then replaced by the adult form of hemoglobin. The elevation of HbF by CTX001 has the potential to alleviate transfusion requirements for TDT patients and painful and debilitating sickle crises for SCD patients. CTX001 is the most advanced gene-editing approach in development for beta thalassemia and SCD.

CTX001 is being developed under a co-development and co-commercialization agreement between CRISPR Therapeutics and Vertex.

About the CRISPR-Vertex CollaborationCRISPR Therapeutics and Vertex entered into a strategic research collaboration in 2015 focused on the use of CRISPR/Cas9 to discover and develop potential new treatments aimed at the underlying genetic causes of human disease. CTX001 represents the first treatment to emerge from the joint research program. CRISPR Therapeutics and Vertex will jointly develop and commercialize CTX001 and equally share all research and development costs and profits worldwide.

About CRISPR TherapeuticsCRISPR Therapeutics is a leading gene editing company focused on developing transformative gene-based medicines for serious diseases using its proprietary CRISPR/Cas9 platform. CRISPR/Cas9 is a revolutionary gene editing technology that allows for precise, directed changes to genomic DNA. CRISPR Therapeutics has established a portfolio of therapeutic programs across a broad range of disease areas including hemoglobinopathies, oncology, regenerative medicine and rare diseases. To accelerate and expand its efforts, CRISPR Therapeutics has established strategic partnerships with leading companies including Bayer, Vertex Pharmaceuticals and ViaCyte, Inc. CRISPR Therapeutics AG is headquartered in Zug, Switzerland, with its wholly-owned U.S. subsidiary, CRISPR Therapeutics, Inc., and R&D operations based in Cambridge, Massachusetts, and business offices in San Francisco, California and London, United Kingdom. For more information, please visit http://www.crisprtx.com.

CRISPR Forward-Looking StatementThis press release may contain a number of forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995, as amended, including statements regarding CRISPR Therapeutics expectations about any or all of the following: (i) the status of clinical trials (including, without limitation, the expected timing of data releases) related to product candidates under development by CRISPR Therapeutics and its collaborators, including expectations regarding the data that is expected to be presented at the European Hematology Associations upcoming congress; (ii) the expected benefits of CRISPR Therapeutics collaborations; and (iii) the therapeutic value, development, and commercial potential of CRISPR/Cas9 gene editing technologies and therapies. Without limiting the foregoing, the words believes, anticipates, plans, expects and similar expressions are intended to identify forward-looking statements. You are cautioned that forward-looking statements are inherently uncertain. Although CRISPR Therapeutics believes that such statements are based on reasonable assumptions within the bounds of its knowledge of its business and operations, forward-looking statements are neither promises nor guarantees and they are necessarily subject to a high degree of uncertainty and risk. Actual performance and results may differ materially from those projected or suggested in the forward-looking statements due to various risks and uncertainties. These risks and uncertainties include, among others: the potential impacts due to the coronavirus pandemic, such as the timing and progress of clinical trials; the potential for initial and preliminary data from any clinical trial and initial data from a limited number of patients (as is the case with CTX001 at this time) not to be indicative of final trial results; the potential that CTX001 clinical trial results may not be favorable; that future competitive or other market factors may adversely affect the commercial potential for CTX001; uncertainties regarding the intellectual property protection for CRISPR Therapeutics technology and intellectual property belonging to third parties, and the outcome of proceedings (such as an interference, an opposition or a similar proceeding) involving all or any portion of such intellectual property; and those risks and uncertainties described under the heading "Risk Factors" in CRISPR Therapeutics most recent annual report on Form 10-K, and in any other subsequent filings made by CRISPR Therapeutics with the U.S. Securities and Exchange Commission, which are available on the SEC's website at http://www.sec.gov. Existing and prospective investors are cautioned not to place undue reliance on these forward-looking statements, which speak only as of the date they are made. CRISPR Therapeutics disclaims any obligation or undertaking to update or revise any forward-looking statements contained in this press release, other than to the extent required by law.

About VertexVertex is a global biotechnology company that invests in scientific innovation to create transformative medicines for people with serious diseases. The company has multiple approved medicines that treat the underlying cause of cystic fibrosis (CF) a rare, life-threatening genetic disease and has several ongoing clinical and research programs in CF. Beyond CF, Vertex has a robust pipeline of investigational small molecule medicines in other serious diseases where it has deep insight into causal human biology, including pain, alpha-1 antitrypsin deficiency and APOL1-mediated kidney diseases. In addition, Vertex has a rapidly expanding pipeline of genetic and cell therapies for diseases such as sickle cell disease, beta thalassemia, Duchenne muscular dystrophy and type 1 diabetes mellitus.

Founded in 1989 in Cambridge, Mass., Vertex's global headquarters is now located in Boston's Innovation District and its international headquarters is in London, UK. Additionally, the company has research and development sites and commercial offices in North America, Europe, Australia and Latin America. Vertex is consistently recognized as one of the industry's top places to work, including 10 consecutive years on Science magazine's Top Employers list and top five on the 2019 Best Employers for Diversity list by Forbes. For company updates and to learn more about Vertex's history of innovation, visit http://www.vrtx.com/ or follow us on Facebook, Twitter, LinkedIn, YouTube and Instagram.

Vertex Special Note Regarding Forward-Looking StatementsThis press release contains forward-looking statements as defined in the Private Securities Litigation Reform Act of 1995, including, without limitation, information regarding the data that is expected to be presented at the European Hematology Association (EHA)s upcoming Congress. While Vertex believes the forward-looking statements contained in this press release are accurate, these forward-looking statements represent the company's beliefs only as of the date of this press release and there are a number of factors that could cause actual events or results to differ materially from those indicated by such forward-looking statements. Those risks and uncertainties include, among other things, that the development of CTX001 may not proceed or support registration due to safety, efficacy or other reasons, and other risks listed under Risk Factors in Vertex's annual report and quarterly reports filed with theSecurities and Exchange Commissionand available through the company's website atwww.vrtx.com. Vertex disclaims any obligation to update the information contained in this press release as new information becomes available.

(VRTX-GEN)

CRISPR Therapeutics Investor Contact:Susan Kim, +1 617-307-7503susan.kim@crisprtx.com

CRISPR Therapeutics Media Contact:Rachel EidesWCG on behalf of CRISPR+1 617-337-4167 reides@wcgworld.com

Vertex Pharmaceuticals IncorporatedInvestors:Michael Partridge, +1 617-341-6108orZach Barber, +1 617-341-6470orBrenda Eustace, +1 617-341-6187

Media:mediainfo@vrtx.com orU.S.: +1 617-341-6992orHeather Nichols: +1 617-839-3607orInternational: +44 20 3204 5275

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New Data for Investigational CRISPR/Cas9 Gene-Editing Therapy CTX001 for Severe Hemoglobinopathies Accepted for Oral Presentation at the 25th European...

The price for a gene therapy drug to treat an intractable disease in toddlerswas set at about 167 million yen ($1.56 million) per patient, the countrys most expensive medicine covered by national health insurance.

The application for Zolgensma was approved at the Central Social Insurance Medical Council, an advisory council for the health minister, on May 13 and will go into effect on May 20.

The drug is for children under the age of 2 with spinal muscular atrophy,in which the poor functioning of motor nerves causes muscle weakness.

Zolgensma was developed to replace the function of a certain gene that is not working properly with the injection of a normal gene.

Patients can receive a single infusion of Zolgensma.

The price of the drug was determined based on that for Spinraza, an existing drug. While Spinraza costs about 9.5 million yen per dosage and needs to be injected repeatedly for a certain period of time, Zolgensma is believed to have a long-lasting benefit through a single injection.

The price of Zolgensma was first set at about 100 million yen, the estimated cost of using Spinraza for several years, and was then increased to about 167 million yen by taking into account the high therapeutic effects and other benefits of Zolgensma.

The amount that users of Zolgensma need to pay will be much lower than the price since they can use the government-sponsored reimbursement system for high-cost medical care, which caps the amount of out-of-pocket medical costs. In addition, many municipalities subsidize all the out-of-pocket expenses if the patients are children.

Only about 25 patients are expected to use Zolgensma annually, so the high cost of the drug will likely have only a limited impact on the nation's overall medical expenses.

Kymriah, which was approved for treatment of leukemia in Japan last year, is priced at 33.49 million yen, the highest price in the country at the time. As technology for developing new drugs advances, more drugs with expensive price tags are expected to be developed in the future. That could put a heavy burden on health insurance associations.

Each association may need to bear a huge financial burden, said a member of the Central Social Insurance Medical Council.

Ataru Igarashi, an associate professor of pharmacoeconomics at Yokohama City University School of Medicine, said, Manufacturers and the authorities are required to fulfill their responsibilities more than ever for explaining whether the value of a drug is truly worth its price.

(This article was written by Tamura Kenji, a senior staff writer, and Ryuichi Hisanaga.)

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Gene therapy drug for infants priced at 170 million yen : The Asahi Shimbun - Asahi Shimbun

ZUG, Switzerland and CAMBRIDGE, Mass. and BOSTON, May 11, 2020 (GLOBE NEWSWIRE) -- CRISPR Therapeutics (Nasdaq: CRSP) and Vertex Pharmaceuticals Incorporated (Nasdaq: VRTX) today announced that the U.S. Food and Drug Administration (FDA) granted Regenerative Medicine Advanced Therapy (RMAT) designation to CTX001, an investigational, autologous, gene-edited hematopoietic stem cell therapy, for the treatment of severe sickle cell disease (SCD) and transfusion-dependent beta thalassemia (TDT).

RMAT designation is another important regulatory milestone for CTX001 and underscores the transformative potential of a CRISPR-based therapy for patients with severe hemoglobinopathies, said Samarth Kulkarni, Ph.D., Chief Executive Officer of CRISPR Therapeutics. We expect to share additional clinical data on CTX001 in medical and scientific forums this year as we continue to work closely with global regulatory agencies to expedite the clinical development of CTX001.

The first clinical data announced for CTX001 late last year represented a key advancement in our efforts to bring CRISPR-based therapies to people with beta thalassemia and sickle cell disease and demonstrate the curative potential of this therapy, said Bastiano Sanna, Ph.D., Executive Vice President and Chief of Cell and Genetic Therapies at Vertex. We are encouraged by these recent regulatory designations from the FDA and EMA, which speak to the potential impact this therapy could have for patients.

Established under the 21st Century Cures Act, RMAT designation is a dedicated program designed to expedite the drug development and review processes for promising pipeline products, including genetic therapies. A regenerative medicine therapy is eligible for RMAT designation if it is intended to treat, modify, reverse or cure a serious or life-threatening disease or condition, and preliminary clinical evidence indicates that the drug or therapy has the potential to address unmet medical needs for such disease or condition. Similar to Breakthrough Therapy designation, RMAT designation provides the benefits of intensive FDA guidance on efficient drug development, including the ability for early interactions with FDA to discuss surrogate or intermediate endpoints, potential ways to support accelerated approval and satisfy post-approval requirements, potential priority review of the biologics license application (BLA) and other opportunities to expedite development and review.

In addition to RMAT designation, CTX001 has received Orphan Drug Designation from the U.S. FDA for TDT and from the European Commission for TDT and SCD. CTX001 also has Fast Track Designation from the U.S. FDA for both TDT and SCD.

About CTX001CTX001 is an investigational ex vivo CRISPR gene-edited therapy that is being evaluated for patients suffering from TDT or severe SCD in which a patients hematopoietic stem cells are engineered to produce high levels of fetal hemoglobin (HbF; hemoglobin F) in red blood cells. HbF is a form of the oxygen-carrying hemoglobin that is naturally present at birth and is then replaced by the adult form of hemoglobin. The elevation of HbF by CTX001 has the potential to alleviate transfusion requirements for TDT patients and painful and debilitating sickle crises for SCD patients. CTX001 is the most advanced gene-editing approach in development for beta thalassemia and SCD.

CTX001 is being developed under a co-development and co-commercialization agreement between CRISPR Therapeutics and Vertex.

About the CRISPR-Vertex CollaborationCRISPR Therapeutics and Vertex entered into a strategic research collaboration in 2015 focused on the use of CRISPR/Cas9 to discover and develop potential new treatments aimed at the underlying genetic causes of human disease. CTX001 represents the first treatment to emerge from the joint research program. CRISPR Therapeutics and Vertex will jointly develop and commercialize CTX001 and equally share all research and development costs and profits worldwide.

About CRISPR TherapeuticsCRISPR Therapeutics is a leading gene editing company focused on developing transformative gene-based medicines for serious diseases using its proprietary CRISPR/Cas9 platform. CRISPR/Cas9 is a revolutionary gene editing technology that allows for precise, directed changes to genomic DNA. CRISPR Therapeutics has established a portfolio of therapeutic programs across a broad range of disease areas including hemoglobinopathies, oncology, regenerative medicine and rare diseases. To accelerate and expand its efforts, CRISPR Therapeutics has established strategic partnerships with leading companies including Bayer, Vertex Pharmaceuticals and ViaCyte, Inc. CRISPR Therapeutics AG is headquartered in Zug, Switzerland, with its wholly-owned U.S. subsidiary, CRISPR Therapeutics, Inc., and R&D operations based in Cambridge, Massachusetts, and business offices in San Francisco, California and London, United Kingdom. For more information, please visit http://www.crisprtx.com.

CRISPR Forward-Looking StatementThis press release may contain a number of forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995, as amended, including statements regarding CRISPR Therapeutics expectations about any or all of the following: (i) the status of clinical trials (including, without limitation, the expected timing of data releases) and discussions with regulatory authorities related to product candidates under development by CRISPR Therapeutics and its collaborators, including expectations regarding the benefits of RMAT designation; (ii) the expected benefits of CRISPR Therapeutics collaborations; and (iii) the therapeutic value, development, and commercial potential of CRISPR/Cas9 gene editing technologies and therapies. Without limiting the foregoing, the words believes, anticipates, plans, expects and similar expressions are intended to identify forward-looking statements. You are cautioned that forward-looking statements are inherently uncertain. Although CRISPR Therapeutics believes that such statements are based on reasonable assumptions within the bounds of its knowledge of its business and operations, forward-looking statements are neither promises nor guarantees and they are necessarily subject to a high degree of uncertainty and risk. Actual performance and results may differ materially from those projected or suggested in the forward-looking statements due to various risks and uncertainties. These risks and uncertainties include, among others: the potential impacts due to the coronavirus pandemic, such as the timing and progress of clinical trials; the potential for initial and preliminary data from any clinical trial and initial data from a limited number of patients (as is the case with CTX001 at this time) not to be indicative of final trial results; the potential that CTX001 clinical trial results may not be favorable; that future competitive or other market factors may adversely affect the commercial potential for CTX001; uncertainties regarding the intellectual property protection for CRISPR Therapeutics technology and intellectual property belonging to third parties, and the outcome of proceedings (such as an interference, an opposition or a similar proceeding) involving all or any portion of such intellectual property; and those risks and uncertainties described under the heading "Risk Factors" in CRISPR Therapeutics most recent annual report on Form 10-K, and in any other subsequent filings made by CRISPR Therapeutics with the U.S. Securities and Exchange Commission, which are available on the SEC's website at http://www.sec.gov. Existing and prospective investors are cautioned not to place undue reliance on these forward-looking statements, which speak only as of the date they are made. CRISPR Therapeutics disclaims any obligation or undertaking to update or revise any forward-looking statements contained in this press release, other than to the extent required by law.

About VertexVertex is a global biotechnology company that invests in scientific innovation to create transformative medicines for people with serious diseases. The company has multiple approved medicines that treat the underlying cause of cystic fibrosis (CF) a rare, life-threatening genetic disease and has several ongoing clinical and research programs in CF. Beyond CF, Vertex has a robust pipeline of investigational small molecule medicines in other serious diseases where it has deep insight into causal human biology, including pain, alpha-1 antitrypsin deficiency and APOL1-mediated kidney diseases. In addition, Vertex has a rapidly expanding pipeline of genetic and cell therapies for diseases such as sickle cell disease, beta thalassemia, Duchenne muscular dystrophy and type 1 diabetes mellitus.

Founded in 1989 in Cambridge, Mass., Vertex's global headquarters is now located in Boston's Innovation District and its international headquarters is in London, UK. Additionally, the company has research and development sites and commercial offices in North America, Europe, Australia and Latin America. Vertex is consistently recognized as one of the industry's top places to work, including 10 consecutive years on Science magazine's Top Employers list and top five on the 2019 Best Employers for Diversity list by Forbes. For company updates and to learn more about Vertex's history of innovation, visit http://www.vrtx.com or follow us on Facebook, Twitter, LinkedIn, YouTube and Instagram.

Vertex Special Note Regarding Forward-Looking StatementsThis press release contains forward-looking statements as defined in the Private Securities Litigation Reform Act of 1995, including, without limitation, the information provided regarding the status of, and expectations with respect to, the CTX001 clinical development program and related global regulatory approvals, and expectations regarding the RMAT designation. While Vertex believes the forward-looking statements contained in this press release are accurate, these forward-looking statements represent the company's beliefs only as of the date of this press release and there are a number of factors that could cause actual events or results to differ materially from those indicated by such forward-looking statements. Those risks and uncertainties include, among other things, that the development of CTX001 may not proceed or support registration due to safety, efficacy or other reasons, and other risks listed under Risk Factors in Vertex's annual report and quarterly reports filed with the Securities and Exchange Commission and available through the company's website at http://www.vrtx.com. Vertex disclaims any obligation to update the information contained in this press release as new information becomes available.

(VRTX-GEN)

CRISPR Therapeutics Investor Contact:Susan Kim, +1 617-307-7503susan.kim@crisprtx.com

CRISPR Therapeutics Media Contact:Rachel EidesWCG on behalf of CRISPR+1 617-337-4167 reides@wcgworld.com

Vertex Pharmaceuticals IncorporatedInvestors:Michael Partridge, +1 617-341-6108orZach Barber, +1 617-341-6470orBrenda Eustace, +1 617-341-6187

Media:mediainfo@vrtx.com orU.S.: +1 617-341-6992orHeather Nichols: +1 617-961-0534orInternational: +44 20 3204 5275

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CRISPR Therapeutics and Vertex Pharmaceuticals Announce FDA Regenerative Medicine Advanced Therapy (RMAT) Designation Granted to CTX001 for the...

KB105 was well tolerated with no adverse events or immune response following redosing

Clearly detectable TGM-1 expression in all treated areas following initial and repeat administration. KB105-expressed TGM1 was correctly localized in the epidermis, co-localizing with loricrin, and was functionally active

Phenotypic evaluation of KB105 treated areas showed reduced reversion to ichthyotic scaling phenotype

Amy Paller, M.D., Professor and Chair of Dermatology at Northwestern University shares detailed results at theSociety for Investigative Dermatology(SID) annual meeting today

Phase 2 study in 4-6 pediatric patients anticipated to initiate in the second half of 2020

PITTSBURGH, May 14, 2020 (GLOBE NEWSWIRE) --Krystal Biotech, Inc. (Nasdaq:KRYS), a gene therapy company dedicated to developing transformative medicines to treat diseases caused by protein or gene dysfunction, today announced interim results for a first-in-human Phase 1/2 placebo controlled clinical trial evaluating topical administration of KB105 in patients with autosomal recessive congenital ichthyosis (ARCI) being presented at the Society for Investigative Dermatology (SID) annual meeting. Following todays results, Krystal plans to enroll pediatric patients in the Phase 2 portion of the clinical trial.

Topical administration of KB105 affords a simple painless way to treat the causative defect in patients suffering from TGM1-deficient ARCI, a debilitating skin disease in which patients have disfiguring generalized scaling and poor skin barrier function, putting them at increased risk for superficial infections caused by bacteria and fungi, said Amy Paller, M.D., Walter J. Hamlin Professor and Chair of Dermatology and Professor of Pediatrics at Northwestern University, Feinberg School of Medicine and principal investigator of the KB105 Phase 1/2 clinical trial. These early data support and warrant continued evaluation of KB105, including extension to pediatric patients and optimization of dose and dosing regimen.

Pooja Agarwal, Ph.D., Senior Vice President of product development at Krystal Biotech added, These results are an early positive signal that KB105 has the potential to provide a meaningful benefit to ARCI patients and supports the planned expansion of our other pipeline programs based on our platform.

KB105 Phase 1/2 Interim Clinical Trial Results

Study Design and Baseline Characteristics Summary

The interim results summarize data from three adult patients, aged 39, 24, and 20 years old who participated in a randomized placebo-controlled study to receive either topical KB105 (2e9 pfu/site) or placebo in circular skin areas of 20cm. The KB105 treated areas were biopsied following a single treatment to assess onset of expression and following multiple repeat administrations to assess durability and efficacy of repeat dosing.

Safety update

Safety data from all three patients showed that repeat dosing with KB105 was well-tolerated with no drug related adverse events and no immune response to the HSV modified vector or TGM1. Also, no vector shedding or systemic exposure was detected in any of the three patients.

Efficacy update

Next Steps

Krystal plans to initiate a Phase 2 study in pediatric patients in the second half of 2020. The Company hopes to incorporate the new ichthyosis severity score scale into studies for clinical validation.

About Krystal Biotech

Krystal Biotech, Inc. (NASDAQ:KRYS) is a gene therapy company dedicated to developing and commercializing novel treatments for patients suffering from dermatological diseases. For more information, please visit http://www.krystalbio.com.

About KB105

KB105 is Krystals second product candidate, currently in clinical development, and seeks to use gene therapy to treat patients with TGM1-deficient ARCI. KB105 is a replication-defective, non-integrating viral vector that has been engineered employing Krystals technology platform to deliver functional human TGM1 gene directly to the patients dividing and non-dividing skin cells. HSV-1 is Krystals replication-deficient, non-integrating viral vector that can penetrate skin cells more efficiently than other viral vectors. Its high payload capacity allows it to accommodate large or multiple genes and its low immunogenicity makes it a suitable choice for direct and repeat delivery to the skin.

About Autosomal Recessive Congenital Ichthyosis

Transglutaminase 1 (TGM1) is an essential epidermal enzyme that facilitates the formation of the epidermal barrier, which prevents dehydration and protects the skin from unwanted toxins and surface microorganisms. The loss of TGM1 activity results in the severe genetic skin disease autosomal recessive congenital ichthyosis (ARCI) of the lamellar ichthyosis subtype. Most patients with a TGM1 deficiency exhibit life-long pronounced scaling with increased transepidermal water loss (TEWL). The scales are plate-like, often of a dark color, and cover the whole-body surface area. Underlying erythroderma can be profound in severely affected individuals, but is masked by the overlying scale. Patients often have ectropion and, at times, eclabium, hypoplasia of joint and nasal cartilage, scarring alopecia, especially at the edge of the scalp, and palmoplantar keratoderma. Additional complications include episodes of sepsis, fluid and electrolyte imbalances due to impaired skin barrier function, and failure to thrive, especially during neonatal period and infancy. Severe heat intolerance and nail dystrophy are also frequently observed. TGM1 deficient ARCI is associated with increased mortality in the neonatal period and has a dramatic impact on quality of life. No efficient treatment is available; current therapy only relieves some symptoms. There are approximately 23,000 cases of TGM1 deficient ARCI worldwide and about 400 new cases per year globally.

Forward-Looking Statements

Any statements in this press release about future expectations, plans and prospects for KrystalBiotech, Inc., including but not limited to statements about the development of Krystals product candidates, such as plans for the design, conduct and timelines of ongoing clinical trials ofberemagenegeperpavec(B-VEC) and KB105;the clinical utility of B-VEC and KB105 and Krystals plans for filing of regulatory approvals and efforts to bring B-VEC and KB105 to market;the market opportunity for and the potential market acceptance of B-VEC and KB105;plans to pursue research and development of other product candidates;the sufficiency of Krystals existing cash resources; theunanticipated impact of COVID-19 onKrystalsbusiness operations, pre-clinical activities and clinical trials; and other statements containing the words anticipate, believe, estimate, expect, intend, may, plan, predict, project, target, potential, likely, will, would, could, should, continue, and similar expressions, constitute forward-looking statements within the meaning of The Private Securities Litigation Reform Act of 1995. Actual results may differ materially from those indicated by such forward-looking statements as a result of various important factors, including: the uncertainties inherent in the initiation and conduct of clinical trials, availability and timing of data from clinical trials, whether results of early clinical trials or trials will be indicative of the results of ongoing or future trials, uncertainties associated with regulatory review of clinical trials and applications for marketing approvals, the availability or commercial potential of product candidates including B-VEC and KB105, the sufficiency of cash resources and need for additional financing and such other important factors as are set forth under the caption Risk Factors in Krystals annual and quarterly reports on file with theU.S. Securities and Exchange Commission. In addition, the forward-looking statements included in this press release represent Krystals views as of the date of this release. Krystal anticipates that subsequent events and developments will cause its views to change. However, while Krystal may elect to update these forward-looking statements at some point in the future, it specifically disclaims any obligation to do so. These forward-looking statements should not be relied upon as representing Krystals views as of any date subsequent to the date of this release.

INVESTOR CONTACTAshley R. RobinsonLifeSci Advisorsarr@lifesciadvisors.com

MEDIA CONTACTDarren Opland, PhDLifeSci Communicationsdarren@lifescicomms.com

Source: Krystal Biotech, Inc.

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Krystal Biotech Announces Positive Interim Results from Phase 1/2 Clinical Trial of KB105 in Patients with TGM1-related Autosomal Recessive Congenital...

Presentation of new and updated results from ongoing Phase 1/2 HGB-206 study of LentiGlobin for sickle cell disease will include additional patients treated in the study

New and updated data, including analysis of healthy red blood cell production in patients with transfusion-dependent -thalassemia following treatment with betibeglogene autotemcel (LentiGlobin for -thalassemia) to be shared

CAMBRIDGE, Mass. bluebird bio, Inc. (Nasdaq: BLUE) announced today that data from its gene therapy programs for sickle cell disease (SCD), transfusion-dependent -thalassemia (TDT) and its cell therapy program for relapsed and refractory multiple myeloma (RRMM) will be presented during the Virtual Edition of the 25th European Hematology Association (EHA25) Annual Congress.

New data from the companys Phase 1/2 HGB-206 study of LentiGlobin gene therapy for SCD will be presented, including updated data from patients in Group C.

bluebird bio will also present data from its ongoing clinical studies of betibeglogene autotemcel (formerly LentiGlobin gene therapy for -thalassemia), including the Phase 3 Northstar-2 (HGB-207) study in patients who do not have a 0/0 genotype and the Phase 3 Northstar-3 (HGB-212) study in patients who have 0/0, 0/+IVS-I-110, or +IVS-I-110/+IVS-I-110 genotypes.

Data from studies of idecabtagene vicleucel (ide-cel; bb2121), the companys anti-B-cell maturation antigen (BCMA) chimeric antigen receptor (CAR) T cell therapy in development with Bristol Myers Squibb, will be presented, including an encore presentation of results from the pivotal Phase 2 KarMMa study.

Sickle Cell Disease Data at EHA25

Oral Presentation: Outcomes in patients treated with LentiGlobin for sickle cell disease (SCD) gene therapy: Updated results from the Phase 1/2 HGB-206 group C study Presenting Author: Julie Kanter, M.D., University of Alabama at Birmingham, Birmingham, Ala.

Transfusion-Dependent -Thalassemia Data at EHA25

Oral Presentation: Improvement in erythropoiesis in patients with transfusion-dependent -thalassemia following treatment with betibeglogene autotemcel (LentiGlobin for -thalassemia) in the Phase 3 HGB-207 study Presenting Author: John B. Porter, MA, M.D., FRCP, FRCPath, University College London Hospital, London, UK

Poster: Betibeglogene autotemcel (LentiGlobin) in patients with transfusion-dependent -thalassemia and 0/0, +IVS-I-110/+IVS-I-110, or 0/+IVS-I-110 genotypes: Updated results from the HGB-212 study Presenting Author: Evangelia Yannaki, M.D., George Papanicolaou Hospital, Thessaloniki, Greece

Multiple Myeloma Data at EHA25

Oral Presentation:Phase II KarMMa study: Idecabtagene vicleucel (ide-cel; bb2121), a BCMA-targeted CAR T cell therapy, in patients with relapsed and refractory multiple myeloma Presenting Author: Jesus San-Miguel, M.D., Ph.D., Clinica Universidad de Navarra, Navarra, Spain

Poster: Quality of life in patients with relapsed and refractory multiple myeloma treated with the BCMA-targeted CAR T cell therapy Idecabtagene vicleucel (ide-cel; bb2121): results from the KarMMa Trial Presenting Author: Michel Delforge, M.D., Ph.D., Leuven University College, Brussels, Belgium

Poster: Matching-adjusted indirect comparisons of efficacy outcomes for idecabtagene vicleucel from the KarMMa study vs selinexor PLUS dexamethasone (STORM part 2) and belantamab mafodotin (DREAMM-2) Presenting Author: Paula Rodriguez-Otero, M.D., Clinica Universidad de Navarra, Navarra, Spain

Poster: Baseline and postinfusion pharmcodynamic biomarkers of safety and efficacy in patients treated with idecabtagene vicleucel (ide-cel; bb2121) in the KarMMa study Presenting Author: Justine DellAringa, Bristol Myers Squibb, Seattle, Wash.

Poster: Correlation of tumor BCMA expression with response and acquired resistance to idecabtagene vicleucel in the KarMMa study in relapsed and refractory multiple myeloma Presenting Author: Nathan Martin, Bristol Myers Squibb, Seattle, Wash.

Abstracts outlining bluebird bios accepted data at the EHA25 Virtual Congress have been made available on the EHA25 conference website. On Friday, June 12 at 8:30 AM CEST, the embargo will lift for poster and oral presentations accepted for EHA25.

About betibeglogene autotemcel The European Commission granted conditional marketing authorization (CMA) for betibeglogene autotemcel, marketed as ZYNTEGLO gene therapy, for patients 12 years and older with TDT who do not have a 0/0 genotype, for whom hematopoietic stem cell (HSC) transplantation is appropriate, but a human leukocyte antigen (HLA)-matched related HSC donor is not available. On April 28, 2020, the European Medicines Agency (EMA) renewed the CMA for ZYNTEGLO, supported by data from 32 patients treated with ZYNTEGLO including three patients with up to five years of follow-up.

TDT is a severe genetic disease caused by mutations in the -globin gene that result in reduced or significantly reduced hemoglobin (Hb). In order to survive, people with TDT maintain Hb levels through lifelong chronic blood transfusions. These transfusions carry the risk of progressive multi-organ damage due to unavoidable iron overload.

Betibeglogene autotemcel adds functional copies of a modified form of the -globin gene (A-T87Q-globin gene) into a patients own hematopoietic (blood) stem cells (HSCs). Once a patient has the A-T87Q-globin gene, they have the potential to produce HbAT87Q, which is gene therapy-derived hemoglobin, at levels that may eliminate or significantly reduce the need for transfusions.

Non-serious adverse events (AEs) observed during the clinical studies that were attributed to betibeglogene autotemcel were abdominal pain, thrombocytopenia, leukopenia, neutropenia, hot flush, dyspnoea, pain in extremity, and non-cardiac chest pain. One serious adverse event (SAE) of thrombocytopenia was considered possibly related to LentiGlobin for -thalassemia for TDT.

Additional AEs observed in clinical studies were consistent with the known side effects of HSC collection and bone marrow ablation with busulfan, including SAEs of veno-occlusive disease.

The CMA for ZYNTEGLO is only valid in the 28 member states of the EU as well as Iceland, Liechtenstein and Norway. For details, please see the Summary of Product Characteristics (SmPC).

The U.S. Food and Drug Administration granted betibeglogene autotemcel Orphan Drug status and Breakthrough Therapy designation for the treatment of TDT. Betibeglogene autotemcel is not approved in the United States.

Betibeglogene autotemcel continues to be evaluated in the ongoing Phase 3 Northstar-2 and Northstar-3 studies. For more information about the ongoing clinical studies, visit http://www.northstarclinicalstudies.com or clinicaltrials.gov and use identifier NCT02906202 for Northstar-2 (HGB-207), NCT03207009 for Northstar-3 (HGB-212).

About LentiGlobin for Sickle Cell Disease LentiGlobin for sickle cell disease is an investigational gene therapy being studied as a potential treatment for SCD. bluebird bios clinical development program for LentiGlobin for SCD includes the ongoing Phase 1/2 HGB-206 study and the ongoing Phase 3 HGB-210 study.

SCD is a serious, progressive and debilitating genetic disease caused by a mutation in the -globin gene that leads to the production of abnormal sickle hemoglobin (HbS), causing red blood cells (RBCs) to become sickled and fragile, resulting in chronic hemolytic anemia, vasculopathy and painful vaso-occlusive crises (VOCs). For adults and children living with SCD, this means unpredictable episodes of excruciating pain due to vaso-occlusion as well as other acute complicationssuch as acute chest syndrome (ACS), stroke, and infections, which can contribute to early mortality in these patients.

LentiGlobin for SCD received Orphan Medicinal Product designation from the European Commission for the treatment of SCD.

The U.S. Food and Drug Administration (FDA) granted Orphan Drug status and Regenerative Medicine Advanced Therapy designation for LentiGlobin for the treatment of SCD.

LentiGlobin for SCD is investigational and has not been approved by the European Medicines Agency (EMA) or FDA.

bluebird bio is conducting a long-term safety and efficacy follow-up study (LTF-303) for people who have participated in bluebird bio-sponsored clinical studies of betibeglogene autotemcel and LentiGlobin for SCD. For more information visit: https://www.bluebirdbio.com/our-science/clinical-trials or clinicaltrials.gov and use identifier NCT02633943 for LTF-303.

About idecabtagene vicleucel (ide-cel; bb2121) Ide-cel is a B-cell maturation antigen (BCMA)-directed genetically modified autologous chimeric antigen receptor (CAR) T cell immunotherapy. The ide-cel CAR is comprised of a murine extracellular single-chain variable fragment (scFv) specific for recognizing BCMA, attached to a human CD8 hinge and transmembrane domain fused to the T cell cytoplasmic signaling domains of CD137 4-1BB and CD3- chain, in tandem. Ide-cel recognizes and binds to BCMA on the surface of multiple myeloma cells leading to CAR T cell proliferation, cytokine secretion, and subsequent cytolytic killing of BCMA-expressing cells.

In addition to the pivotal KarMMa trial evaluating ide-cel in patients with relapsed and refractory multiple myeloma, bluebird bio and Bristol Myers Squibbs broad clinical development program for ide-cel includes clinical studies (KarMMa-2, KarMMa-3, KarMMa-4) in earlier lines of treatment for patients with multiple myeloma, including newly diagnosed multiple myeloma. For more information visit clinicaltrials.gov.

Ide-cel was granted Breakthrough Therapy Designation (BTD) by the U.S. Food and Drug Administration (FDA) and PRIority Medicines (PRIME) designation, as well as Accelerated Assessment status, by the European Medicines Agency for relapsed and refractory multiple myeloma.

Ide-cel is being developed as part of a Co-Development, Co-Promotion and Profit Share Agreement between Bristol Myers Squibb and bluebird bio.

Ide-cel is not approved for any indication in any geography.

About KarMMa KarMMa (NCT03361748) is a pivotal, open-label, single-arm, multicenter, multinational, Phase 2 study evaluating the efficacy and safety of ide-cel in adults with relapsed and refractory multiple myeloma in North America and Europe. The primary endpoint of the study is overall response rate as assessed by an independent review committee (IRC) according to the International Myeloma Working Group (IMWG) criteria. Complete response rate is a key secondary endpoint. Other efficacy endpoints include time to response, duration of response, progression-free survival, overall survival, minimal residual disease evaluated by Next-Generation Sequencing (NGS) assay and safety. The study enrolled 140 patients, of whom 128 received ide-cel across the target dose levels of 150-450 x 10P6P CAR+ T cells after receiving lymphodepleting chemotherapy. All enrolled patients had received at least three prior treatment regimens, including an immunomodulatory agent, a proteasome inhibitor and an anti-CD38 antibody, and were refractory to their last regimen, defined as progression during or within 60 days of their last therapy.

About bluebird bio, Inc. bluebird bio is pioneering gene therapy with purpose. From our Cambridge, Mass., headquarters, were developing gene therapies for severe genetic diseases and cancer, with the goal that people facing potentially fatal conditions with limited treatment options can live their lives fully. Beyond our labs, were working to positively disrupt the healthcare system to create access, transparency and education so that gene therapy can become available to all those who can benefit.

bluebird bio is a human company powered by human stories. Were putting our care and expertise to work across a spectrum of disorders including cerebral adrenoleukodystrophy, sickle cell disease, -thalassemia and multiple myeloma, using three gene therapy technologies: gene addition, cell therapy and (megaTAL-enabled) gene editing.

bluebird bio has additional nests in Seattle, Wash.; Durham, N.C.; and Zug, Switzerland. For more information, visit bluebirdbio.com.

Follow bluebird bio on social media: @bluebirdbio, LinkedIn, Instagram and YouTube.

ZYNTEGLO, LentiGlobin, and bluebird bio are trademarks of bluebird bio, Inc.

Forward-Looking Statements This release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995. Any forward-looking statements are based on managements current expectations of future events and are subject to a number of risks and uncertainties that could cause actual results to differ materially and adversely from those set forth in or implied by such forward-looking statements. These risks and uncertainties include, but are not limited to: regarding the potential for betibeglogene autotemcel to treat transfusion-dependent -thalassemia and the potential for LentiGlobin for sickle cell disease (SCD) to treat SCD; and the risk that the efficacy and safety results from our prior and ongoing clinical trials will not continue or be repeated in our ongoing or planned clinical trials. For a discussion of other risks and uncertainties, and other important factors, any of which could cause our actual results to differ from those contained in the forward-looking statements, see the section entitled Risk Factors in our most recent Form 10-Q, as well as discussions of potential risks, uncertainties, and other important factors in our subsequent filings with the Securities and Exchange Commission. All information in this press release is as of the date of the release, and bluebird bio undertakes no duty to update this information unless required by law.

View source version on businesswire.com: https://www.businesswire.com/news/home/20200514005234/en/

Contacts

Media: Catherine Falcetti, 339-499-9436 cfalcetti@bluebirdbio.com Victoria von Rinteln, 617-914-8774 vvonrinteln@bluebirdbio.com

Investors: Ingrid Goldberg, 410-960-5022 Ingrid.goldberg@bluebirdbio.com Elizabeth Pingpank, 617-914-8736 epingpank@bluebirdbio.com

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bluebird bio to Present Data from Its Gene and Cell Therapy Programs During the Virtual Edition of the 25th European Hematology Association Annual...

CAMBRIDGE, Mass.--(BUSINESS WIRE)--Foundation Medicine, Inc. today announced that new data supporting the clinical use of its portfolio of tissue and liquid comprehensive genomic profiling (CGP) tests will be presented at the 2020 American Society of Clinical Oncology (ASCO) Virtual Scientific Program, which will be held from May 29 to May 31. The company and its collaborators will present a total of 22 studies, including two clinical symposia presentations and one poster discussion. The data highlight insights into the utility of liquid biopsy CGP testing to help inform treatment selection across a variety of advanced cancers and the predictive role of tumor mutational burden (TMB) as a genomic signature to optimize precision medicine approaches.

Highlights of these presentations include:

At this meeting, well share new data demonstrating the use of clinically relevant insights from our tissue and liquid comprehensive genomic profiling tests to inform treatment decision-making and improve patient outcomes through methods such as identifying resistance mechanisms, said Brian Alexander, M.D., M.P.H., chief medical officer at Foundation Medicine. Were at an important juncture in personalized medicine where pan-tumor complex signatures such as TMB and MSI are growing in their clinical importance, and our data show the unique ability of CGP to investigate these nuanced biomarkers of response and advance precision treatment approaches.

Clinical Validity of Liquid Biopsy Comprehensive Genomic Profiling

In a study conducted in collaboration with the Dana Farber Cancer Institute, researchers characterizing NSCLC cases found MET exon 14 skipping alterations present in 2.3 percent of tumor DNA samples, representing six major subtypes. The analysis of paired tumor and liquid biopsy samples identified potential acquired resistance mechanisms that may be critical to predicting response to MET inhibitors and identifying matched targeted therapy options, which have recently shown clinical efficacy for this subset of patients, demonstrating the importance of testing NSCLC patients for these alterations.

[Characterization of 1,387 NSCLCs with MET exon 14 (METex14) skipping alterations (SA) and potential acquired resistance (AR) mechanisms. Abstract #9511.]

In a retrospective analysis, researchers compared more than 325,000 tumor tissue samples to over 28,000 patient-matched plasma samples to understand the clinical validity of liquid biopsy CGP in detecting kinase fusions. Kinase gene fusions identified by tissue-based CGP were also detected by liquid biopsy CGP in temporally-matched plasma samples, with high positive percent agreement between tissue and liquid biopsies. The analysis of liquid biopsy samples also identified acquired alterations consistent with known mechanisms of resistance.

[Pan-tumor analyses of kinase fusions detected in circulating tumor DNA (ctDNA) and concordance with paired tissue. Abstract #3517. Poster #247.]

A clinically advanced prostate cancer study used CGP on pre-treatment primary tumor biopsy, post-treatment metastatic biopsy and liquid biopsy to uncover differences in genomic alterations and potential impact on treatment selection. The study demonstrated how systemic treatment resulted in genomic changes in metastases as the tumor evolves to survive. Given the variance between metastatic sites, liquid biopsy may capture a broader range of therapy opportunities for patients.

[Contrasting genomic profiles in post-systemic treatment metastatic sites (MET), pretreatment primary tumors (PT), and liquid biopsies (LB) of clinically advanced prostate cancer (PC). Abstract #5534. Poster #115.]

Complex Biomarkers as Predictor of Immunotherapy Response

In an analysis of the Phase III IMvigor130 study, researchers explored the potential predictive role of TMB, PD-L1 expression and T-effector gene expression biomarkers in patients with metastatic urothelial cancer. The results reinforce the potential predictive nature of biomarkers associated with response or resistance to atezolizumab monotherapy or atezolizumab in combination with platinum-based chemotherapy.

[Tumor, immune, and stromal characteristics associated with clinical outcomes with atezolizumab (atezo) + platinum-based chemotherapy (PBC) or atezo monotherapy (mono) versus PBC in metastatic urothelial cancer (mUC) from the phase III IMvigor130 study. Abstract #5011.]

The following is a list of select abstracts that will be presented at the meeting. To access all abstracts being presented by Foundation Medicine and its collaborators, please visit: meetinglibrary.asco.org.

Abstract #

Title

Collaborator

Clinical Science Symposia

9511

Characterization of 1,387 NSCLCs with MET exon 14 (METex14) skipping alterations (SA) and potential acquired resistance (AR) mechanisms

Dana Farber Cancer Institute

5011

Tumor, immune, and stromal characteristics associated with clinical outcomes with atezolizumab (atezo) + platinum-based chemotherapy (PBC) or atezo monotherapy (mono) versus PBC in metastatic urothelial cancer (mUC) from the phase III IMvigor130 study

Poster Discussion

3517

Pan-tumor analyses of kinase fusions detected in circulating tumor DNA (ctDNA) and concordance with paired tissue

Poster Presentations

1050

Patient-matched tissue and liquid biopsies identify shared and acquired genomic alterations in breast cancer

5534

Contrasting genomic profiles in post-systemic treatment metastatic sites (MET), pretreatment primary tumors (PT), and liquid biopsies (LB) of clinically advanced prostate cancer (PC)

TPS2087

A multi-stakeholder platform to prospectively link longitudinal, real-world clinico-genomic, imaging and outcomes data for patients with metastatic lung cancer

Flatiron Health

3060

Characteristics and outcomes of real-world (RW) patients (pts) with microsatellite instability-high (MSI-H) solid tumors treated with pembrolizumab monotherapy (P) after FDA approval

Flatiron Health

9591

Real-world (RW) outcomes for non-small cell lung cancer (NSCLC) patients (pts) with EGFR exon 19 deletions (x19del) stratified by deletion size

Flatiron Health

3622

Increased tumor purity and improved biomarker detection using precision needle punch enrichment of specimen paraffin blocks: method validation and implementation in a prospective clinical trial

3620

Pan-cancer analysis of FGFR1-3 genomic alterations to reveal a complex molecular landscape

5527

Association of BRCA alteration (alt) type with real-world (RW) outcomes to PARP inhibitors (PARPi) in patients (pts) with metastatic castrate resistant prostate cancer (mCRPC)

About Foundation MedicineFoundation Medicine is a molecular information company dedicated to a transformation in cancer care in which treatment is informed by a deep understanding of the genomic changes that contribute to each patient's unique cancer. The company offers a full suite of comprehensive genomic profiling assays to identify the molecular alterations in a patients cancer and match them with relevant targeted therapies, immunotherapies and clinical trials. Foundation Medicines molecular information platform aims to improve day-to-day care for patients by serving the needs of clinicians, academic researchers and drug developers to help advance the science of molecular medicine in cancer. For more information, please visit http://www.FoundationMedicine.com or follow Foundation Medicine on Twitter (@FoundationATCG).

Foundation Medicine and FoundationOneCDx are registered trademarks of Foundation Medicine, Inc.

Source: Foundation Medicine

Original post:
Foundation Medicine and Collaborators to Share New Data During the ASCO20 Virtual Scientific Program Showcasing the Importance of Comprehensive...

The key to understanding and fighting the mysterious COVID-19-related inflammatory illness that is targeting children across the state could be in their genes.

The New York Genome Center is analyzingblood samples from the young patients with the hopes of finding genetic markers specific to the disease known as "pediatric multi-system inflammatory syndrome associated with COVID-19."

The state is investigating 102 cases of children who have the illness, which shows symptoms similar to Kawasaki disease or toxic shock syndrome. Three people, including an 18-year-old girl from Suffolk County, have died from the syndrome.

"This approach is widely used to study the genetic basis of all diseases, said Tom Maniatis, Evnin Family Scientific director and chief executive officer of the New York Genome Center. We are trying to see if there are anygenetic clues to what might be causing this syndromein children.

If we can detect and understand thegenetic basis for predisposition, and how the immune system is affected in the disease, it might be possible to develop strategies for the clinical care of these children, he added.

Gov.Andrew M. Cuomo announced last week the state Department of Health was partnering with the Genome Center and The Rockefeller University to conduct a genome and RNA sequencing study of the illness, which hasbeen identified in 14 other states, including neighboring New Jersey and Connecticut, as well as five European countries.

Cuomo said Wednesday that60% of children with the illness have tested positive for COVID-19 and 40% had the antibody, meaning they may have been exposed to the coronavirus weeks before. Of those affected, 71% became seriously ill and were placed in intensive care units. He said 43% of those minors remain hospitalized and 19% had to be intubated.

According to a racial and ethnic breakdown of cases on thestate health department's website, 25% were white, 23% black, 20% other, 3% Asian and 31% unknown. In addition, 35% were Hispanic/Latino, 40% non Hispanic and 25% unknown.

Officials at Cohen Childrens Medical Center in New Hyde Park said they are seeing as many as two or three children a day with symptoms of the syndrome: fever and severe abdominal pain, rashes, and red lips, eyes and tongue.

Experts believethe patients bodies might be having an extreme reaction to COVID-19, the disease caused by the novel coronavirus.

Whats so striking about this phenomena is that we all thought that most children were relatively safe, considering that they have the lowest mortality rate of any of the categories of COVID patients, Maniatis said.

A genome is an organisms complete set of DNA, including its genes, with all of the information needed to build and maintain that organism, according to the Bethesda, Maryland-based National Institutes of Health.

Researchers will look through the genome of patients in an effort to find DNA sequences that vary from the standard.

By comparing the childrens DNA sequence to the standard, we might be able to identify a variant that is not seen normally in most individuals, Maniatis said. And if you can show that it happens enough, you can begin to conclude that statistically its likely the DNA sequence change is associated with the disease."

The next step is RNA sequencing, which could provide insights into identification of altered immune pathways that are known to operate during virus infections.

Similar sequencing research conducted in the past led scientists to discover a gene mutation in people with blood cancer that impacted their immune system. A drug calledGleevec was developed to correct that mutation.

The Feinstein Institutes for Medical Research in Manhasset plans to participate in the study, said Dr. Peter Gregersen, professor of molecular medicine at Feinstein, the research arm of Northwell Health.

He said understanding the genetic variations of COVID-19 and the related illness thats attacking children is key to finding effective treatment.

We know age, sex and certain underlying conditions play a role, but genetic variations have something to do with this as well, Gregersen said. A lot of variations are unexplained. We know there is a huge variation, and some people dont get sick at all, while others have a devastating illness.

Maniatis said a vital part of the investigation is the collaboration with Jean-Laurent Casanova, head of the St. Giles Laboratory of Human Genetics of Infectious Diseases at The Rockefeller University.

He is one of the worlds experts in this field, and he established an international consortium directed toward understanding exceptional cases of clinical manifestations, Maniatis said. With Jean Laurents participation, the search would extend from our efforts in New York and New Jersey to include researchers around the world and that will increase the statistical significance of any finding.

Lisa joined Newsday as a staff writer in 2019. She previously worked at amNewYork, the New York Daily News and the Asbury Park Press covering politics, government and general assignment.

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Researchers: Disease affecting kids could be in the genes - Newsday

The healthcare provider organization is a crucial participant in a fast-evolving ecosystem around precision medicine, which includes pharma and biotech companies, medical device manufacturers, national research organizations, academic medical centers, patient advocacy groups, and others.

According to the Precision Medicine Initiative, precision medicine is an approach for disease treatment and prevention that takes into account individual variability in genes, environment and lifestyles.

Precision medicine and personalized medicine often are used interchangeably, but have slightly different connotations with the former focused more on the clinical realm of genomics and the latter taking a more expansive view of social and behavioral health.

Both hold huge potential for better health outcomes but also require complex and challenging technology deployments, changes to clinical workflow, and education for physicians and patients alike.

It is important that the provider CIO help to lead their organization into this new world by considering how existing technologies can be optimized and how new, disruptive technologies can be anticipated over multiple years of capital budget investments, said Dan Kinsella, managing director, healthcare and life science, at consulting giant Deloitte.

Of paramount importance to the typical provider CIO is how to operationalize precision medicine at the point of care. There is not a one-size-fits-all solution for healthcare providers, but there are leading practices to consider whether you are an academic medical center, an integrated delivery network or a community hospital.

In this special report, seven precision medicine technology experts from Accenture, CereCore, Chilmark Research, Deloitte and Orion Health offer healthcare provider organization CIOs and other health IT leaders best practices for optimizing this technology.

Some optimization techniques for precision medicine technologies can take place during system implementation. Implementing precision medicine technology is no different from any other IT implementation project, said Ian McCrae, CEO of Orion Health, a healthcare technology company delivering interoperability, population health and precision medicine systems.

Healthcare CIOs and other health IT leaders must get the basics of change management right by following seven steps, McCrae advised.

Ian McCrae, Orion Health

First, know what problem you are trying to solve, he said. Have this clearly defined from the outset. Dont make the mistake of trying to implement the tech if you havent identified what you will be using it for. Second, ensure the solution makes life easier and delivers a better outcome. If the project fails in either of these areas, then it will fail overall. If the precision medicine tech doesnt make life easier for clinicians, or deliver a better outcome for patients, then why are you implementing it?

Third, have clear roles and responsibilities, including data stewardship, governance and ethics, he suggested. The principles of data governance and stewardship are critical, and must not be overlooked if a project is to be successful, he said.

What are your guidelines for governing the data you will extract? he asked. These guidelines should be clearly aligned with your organizations strategic vision and values. Ethics of data use is another critical area: informed patient consent, the right to withdraw, confidentiality, objectivity the list is long.

Fourth, CIOs need to connect the dots with precision medicine technologies, McCrae advised.

Providing a better prediction without a means to act on it will be a recipe for frustration, he said. Once you have the technology to enable improved predictions, will you also have the resources to apply the learnings? If you cant deliver a better outcome for patients, then its likely your project will fail. Fifth, remember accuracy isnt necessarily the most important thing.

We often compare solutions by how often they get the answer right, without understanding what people want to do with the answer, he added. Knowing that someone is 61.3% likely to get cancer versus 59.8% isnt as important as how quickly you can know it, and what you can do when you find out.

Sixth, stick to the plan and do not get distracted by failures along the way, he said.

We find it hard to continue the development of something when the first stage isnt as successful as we had hoped, he noted. If we are aiming to make precision medicine the gold standard across different fields but the first application isnt successful, that doesnt mean you should throw out the goal.

And seventh, start with specialties where the application is clear, said McCrae. Rather than aiming to implement the tech into a multitude of areas, select one or two specialties where the value of precision medicine is clear. Learn from those before expanding into new areas.

Dr. Charles Bell, chief medical officer at CereCore, a health IT consulting firm, advised that getting the foundational infrastructure established before precision medicine can be applied via the EHR is one best practice for optimizing the use of the technology.

Precision medicine relies on genomics genomics, including pharmacogenomics, has created a vast amount of data, whereas the advent of the EHR has established an enormous data repository, he said. The success of advancing the technology is dependent on the genomic data residing in a repository that the EHR can readily provide access to. Therefore, there is a foundational infrastructure that must be established before precision medicine can be applied leveraging the EHR platforms.

Dr. Charles Bell, CereCore

Genomic medicine is currently informing clinical care. Notable examples are in the treatment of some cancer types, cystic fibrosis and heart disease.

The integration of the EHR, the data repository and the genomics medicine platform becomes essential to translate relevant and crucial data to drive precision medicine care, Bell said. A streamlined workflow must be established that allows clinicians to provide appropriate care from within the EHR using genomics and precision medicine.

Precision medicine requires capturing and analyzing complex data so that it is actionable at the point of care. Evolution of clinician workflow to support precision medicine use cases even those that are relatively simple, such as pharmacogenomics requires multidisciplinary change-management efforts and thoughtful systems integration, said Kinsella of Deloitte.

Furthermore, the challenges of leveraging next-gen sequencing data in clinical decision support exceeds the capability of current EHR systems, except in certain use-cases such as pharmacogenomics, said Kinsellas colleague Connor OBrien, manager at Deloitte Consulting.

Dan Kinsella, Deloitte

This requires external decision support analysis, which often is a manual process, such as the outputs of diagnostic review boards, although we are seeing many attempts at automation being applied, such as the decision-support platforms being deployed by GenomOncology, 2bPrecise, Syapse and others.

When it comes to oncology and other service line roadmaps, health IT leaders should work with their service-line leaders to understand any gaps they have in the technology required to enable excellence in care delivery, Kinsella suggested.

With oncology specifically, ensure that genomic requirements are understood as the capital investments may require multiple fiscal years, he said. Refine your technology roadmap for tumor boards as the future state is likely to include a variety of external contributors such as leading academic medical centers and drug and biotech companies.

Then there are social determinants of health (SDoH). Precision requires understanding of variability in environment and lifestyle in addition to genetics. While most provider organizations are oriented to patients, expansion to the notion of member as an individual who may or may not have a medical record is required, Kinsella insisted.

Value-based contracts with payers define specific cohorts (members) for whom the provider has assumed a level of accountability, he explained. Background and lifestyle questions not typically the focus of most EHR-centric workflows are crucial to the personalization of the care we deliver.

With precision medicine comeinstitutional alliance relationships, said Kinsellas colleague Kate Liebelt, a manager with the Precision Medicine Community of Practice at Deloitte Consulting.

In addition to having the logo on your website, what is the essence of your relationships with your external partners? she asked. Are you sending your data out to a registry without distilling the value of that information for care of your own patients? Increasingly, providers are licensing proprietary data to industry partners. For example, Cancer Commons is a not-for-profit network focused on connecting patients, physicians and providers to access cutting-edge personalized treatments beyond the traditional standard of care, through data sharing.

Entities like the Texas Medical Center Accelerator harness innovation and talent from area healthcare organizations and generate start-up companies with regional, local and international reach, she added.

Real-world evidence is driving innovation in value-based contracting and reimbursement strategies as demonstrated by the CMS Oncology Care Model a new payment and delivery model designed to improve the effectiveness and efficiency of specialty care, she explained. Enablement of precision medicine helps AMCs continue to meet their tripartite mission of education, care delivery and research.

And on a related note, interoperability. Sending and receiving data from across the evolving ecosystem requires that one be at the top of one's game regarding interoperability and, importantly, cybersecurity and compliance from FTTP, to HL7, to FHIR APIand beyond, OBrien said.

Dont leave out your CISO or legal and compliance teams, he said. Current architectures integrate insights from external clinical-decision-support systems, with the EHR serving as the transactional system of record:insights derived from external decision support FHIR API-based integrations that trigger EHR transactions such as pre-populated order sets, modifications to problem lists, and incorporation of CLIA test reports into clinical documentation modules in EHRs.

Jody Ranck, senior analyst at Chilmark Research, a healthcare IT research and consulting firm, advised that integration of genomic data across different EHR systems and across different laboratory and precision medicine platforms is key and challenging for most organizations.

Genetic test results tend to be large files that are difficult to integrate into an EHR, he said. Therefore, having a road map for your precision medicine approach is essential to think ahead several years and analyze which clinical areas will be impacted by the precision medicine program first. Oncology tends to be the most well-developed area, but in our COVID-19 moment, we may see the need for adjustments as significant caseloads of patients are those recovering from treatment with long-term challenges and new knowledge of the virus expands.

Jody Ranck, Chilmark Research

The impact of the pandemic on precision medicine may have some long-term consequences for best practices.

There will be a distributional shift of baseline health characteristics at the population level for the datasets that machine learning algorithms were trained on and new features to these populations that may interact with specific precision medicine initiatives, Ranck said.

The pandemic also has highlighted how poorly prepared the health IT infrastructure was for a public health crisis. Future federal funding, if funded wisely, will have significant funding to enhance precision public health initiatives, particularly those that bring social determinants into the picture. CIOs will face growing pressure to find effective ways to leverage and enhance SDoH efforts through more precise allocation knowledge and financial resources to address the sequelae of the pandemic.

One best practice for optimizing precision medicine technology is to create integration standards that support treatment across ambulatory and inpatient settings, said Bell of CereCore.

The large amount of data that has been generated in both the ambulatory and inpatient settings creates a challenge for integration of the information, he said.

Standards need to be established and refined to aid in the adoption of the technology that will support precision medicine. Clinical-decision-support capabilities must be integrated within the EHR. The evolution of the use of genomics to support precision medicine is dependent on collaborative development by multiple stakeholders.

The list of requirements includes, but is not limited to, genomics specifications, clinical decision support, systems capable of handling genomic information, and resources to bridge the gaps between the data and its use clinically, he added.

An example of the use of pharmacogenetics is that of Warfarin dosing, he said. For a decade now, recommendations for Warfarin dose requirements have been influenced by gene studies. Though there continue to be questions of the effect on specific genotypes in some patient populations, there still has been an improvement in treatment of identified patients with warfarin therapy. The result is that information is gained for a more effective treatment plan and a decreased risk of potentially harmful side effects.

The more specific needs of varied patient populations can be addressed with further use of genetic data that is standardized across the patients settings, he added.

Most EHRs offer a genomics solution to address providers workflow, Bell noted. An order is entered into the system and a pathway provides information to enhance clinical decision-making. It takes into account clinical decision support as well as alternatives if genomic results do not exist or are not accessed within the system. For all vendors, including Meditech, Cerner and Epic, storage and access to genomic repositories needs to be resolved.

eMerge and ClinGen are examples of organizations, along with other resources and efforts, that are developing approaches to integrate genomic information into precise clinical care, he added.

To enable precision medicine, leading provider organizations are refreshing their existing analytics strategies, and hardening core data-management capabilities, said Kinsella of Deloitte. Note that analytics includes descriptive (reports on what happened yesterday), predictive (what might happen in the future) and prescriptive (for example, precision medicine leading practices), he explained.

Regarding reference architecture, use what you have, buy what you need and build what you must, Kinsella said. Explore the capabilities of your core enterprise applications including EHR, ERP and cost accounting, and adjust known levers for example, clinical-decision-support capabilities, lab-management systems, and billing and coding management to operationalize a precision medicine program. Focus on the tools you may require to ensure collection, curation, calculation and consumption of data to generate analytic insights.

On a related front, there are edge technologies and big data. By leveraging open source and edge solutions, providers can augment legacy analytics and data management capacity, Deloittes OBrien said.

For example, providers increasingly are commissioning data lakes to collect and curate data from a variety of internal and external sources, he noted. The velocity of data, including streaming, enables monitoring (for example, sepsis data),disease management and population health surveillance (for example, SDoH), and remote patient-monitoring, tapping into the tsunami of data generated from wearables and IoT.

The need for analysis provenance and traceability of results becomes amplified when dealing with molecular-level data, due to the dynamic nature of scientific discovery, he added.

Genomic variants that are classified as variants of unknown significance today can become clinically significant as scientific knowledge progresses, he said. These requirements will become even more critical as more dynamic types of omics data become clinically significant, such as being realized in the case of metabolomic and proteomic data. Put simply, todays information exhaust may become tomorrows rocket fuel.

In the continuous pursuit of data excellence, CIOs should collaborate with CMIOs, CNIOs and clinical informatics to ensure that key data elements are understood, configured to be captured by the enterprise applications, and, most important, align the workflow so that data is collected predictably, Kinsella said.

Registries, often a standard feature of enterprise EHRs, represent untapped potential, he noted. Typical features include definition of inclusion rules and calculation instructions for specific cohorts of patients. When, for example, does a diabetic patient get tagged as a diabetic patient in the diabetes registry?

Threaded throughout the emerging theme of precision medicine enablement is education around analytics: training in data science, and the application of descriptive, predictive and prescriptive analytics, he added. Increasingly, provider organizations are hiring in-house analytics experts and partnering with entities on their data strategies and capabilities, he said.

Review your organization strategy and align your data sharing approach accordingly, added Deloittes Liebelt. Are you motivated by social good? Academic pursuit of new science? Are you open to earning revenue by sharing de-identified data by building bandwidth to drive robust real-world evidence programs and innovative industry partnerships?

Patient registries and patient-reported outcomes-measurement are a significant means of value creation for provider organizations, particularly in the areas of oncology, rare and orphan disease, and chronic disease management, she said.

Theoretically, providers can predict and validate a patients predisposition to diabetes and track and measure their progress on various treatment regiments through the systematic collection of patient data, for example, population-level data, lab results, patient-reported outcomes, etc., she explained.

As providers continue to make their real-world data available in open, closed or hybrid networks, there is an emergence of innovative partnership opportunities with other provider organizations, pharmaceutical/biotechnology/medical device companies, health insurance companies, and publicly and privately funded research institutions.

On another front, precision medicine is a significant mind-shift for both patients and providers, and the integration of genomic data, or more importantly, knowledge, is a significant challenge, said Ranck of Chilmark Research.

The process of obtaining genetic information is not always as straightforward,and interpreting these results for a patient can be difficult, he said. Most diseases are not a one gene equals X disease type of phenomenon.

Physicians will need more time to digest precision medicine data and render this into actionable information for the patient, he said.

In the context of standard clinical workflows, this is a challenge, he observed. However, there are platforms that can reduce the burden for physicians, but rigorous evaluation of these solutions and the underlying science needs to be done by physicians and scientists with sufficient knowledge of statistics, machine learning and genetics.

Genetic counselors will be essential and may not be in adequate supply as precision medicine matures, he added. Precision medicine is not solely a technological issue and needs to be understood as socio-technical in nature.

Dr. Kaveh Safavi, senior managing director at Accenture Health, offers two best practices when trying to optimize precision medicine technology.

Good clinical practice today needs therapy to be tailored to the genetics of the tumor and the patients immune system for many types of cancer, he explained.

Dr. Kaveh Safavi, Accenture Health

From a CIO perspective, precision medicine achievements mean building a new environment for data acquisition, analysis and decision support in near real time. Oncology decision-support platforms will require managing genetic information of the patient, the patients tumor and other phenotypic data that may not be part of the typical electronic health record.

Since much of oncology care is provided in an ambulatory setting, it also will require seamless data sharing across care settings that may cross boundaries of a clinical enterprise but be essential to treating a patients condition in the most appropriate way possible, Safavi said.

And on another note, there is a growing body of knowledge that combines pharmacology and genomics to develop effective and safe medications and doses tailored to a patients genetic makeup, he said. A delicate part of a CIOs responsibility is selecting and investing in an informatics strategy to support this highly dynamic aspect of clinical care.

An informed drug-prescribing platform requires the ability to gather biological information found in genomes, microbiomes, proteomes, metabolomes, phenotypes and endotypes, he concluded, and applying them to drug-prescribing decision-support platforms used by prescribers should take into account looking for technology architectures with the greatest flexibility to predictably handle large data volumes and data types.

Twitter:@SiwickiHealthITEmail the writer:bill.siwicki@himssmedia.comHealthcare IT News is a HIMSS Media publication.

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Tech optimization: Unlocking the promise of precision medicine - Healthcare IT News