Daily Archives: April 20, 2022

Discovering new genes that are linked to undiagnosed diseases not only has important scientific and clinical consequences, but it also carries important personal implications for patients.

For instance, a study by a team of researchers at Baylor College of Medicine of a novel neurodevelopmental disorder resulted in the discovery of associated mutations or deletions affecting a gene called PAX5.

Led by corresponding authorDr. Daryl Scott, the Baylor team connected with researchers around the globe who studied PAX5 using an online site calledGeneMatcher. Working together, the group described 16 patients who exhibited similar characteristics, including developmental delay, intellectual disability and autism spectrum disorder. Some patients also experienced seizures and hearing loss.

The researchers also examined data from theInternational Mouse Phenotyping Consortiumand discovered that defects in Pax5 caused similar symptoms in mouse models.

The data show that PAX5 is a gene that causes medical problems even if only one copy is mutated or deleted, said Scott, associate professor in theDepartment of Molecular and Human Geneticsat Baylor.

This gene also stood out as being really important for normal brain function in mouse models, which mirrored what we saw in our patients.

Patients in the cohort did not have a recurrent pattern of abnormal brain MRI findings, structural birth defects or dysmorphic features. Scott stresses that the lack of these findings should not deter doctors from performing genetic testing for their patients with neurodevelopmental symptoms.

Children who dont look like they have a genetic syndrome, but have these neurodevelopmental issues, could carry changes in this gene, Scott said. Thats why we should be doing genetic testing for all children who have developmental delay and intellectual disability.

Documenting characteristics of disease genes like PAX5 not only can help expedite basic science and clinical research. According to Scott, the findings in this report provided long-awaited answers to the families in the study and will have an immediate impact for undiagnosed patients in genetics clinics.

As we discover new genes like PAX5, our diagnostic tests get better, Scott said.

From this point forward, diagnostic labs will start to check for changes in this gene. As geneticists, we are constantly reviewing older patient data to see if we can come up with new diagnoses thanks to discoveries like this one.

Thanks to the discovery of genes like PAX5, scientists and physicians have a better understanding of a novel neurological condition, can provide answers to some undiagnosed patients and have an improved diagnostic tool box when presented with a patient with undiagnosed neurodevelopmental issues.

Find all the details about this study in the journal Human Mutation.

Dr. Yoel Gofin, second-year medical genetics fellow in the Department of Molecular and Human Genetics at Baylor, is first author of the paper. Other authors at Baylor include Dr. Aliska M. Berry, Dr. Mahshid S. Azamian, Dr. Carlos A. Bacino, Dr. Seema R. Lalani and Jill A. Rosenfeld.

For a full list of authors and funding information, see the publication.

By Molly Chiu

See the article here:
Discovery of genes like PAX5 improves diagnostic testing for neurodevelopmental disorders, and more - Baylor College of Medicine

IRVINE, Calif. & BASEL, Switzerland--(BUSINESS WIRE)--Urovant Sciences, a wholly-owned subsidiary of Sumitovant Biopharma Ltd., announced that data from a Phase 2a trial of the investigational, novel gene therapy, URO-902, will feature as a late-breaker at the 2022 annual meeting of the American Urological Association (AUA2022), May 13-16, in New Orleans, Louisiana. The plenary presentation will include interim efficacy and safety data on URO-902 from the ongoing Phase 2a trial.

In addition, two podium presentations at AUA2022 will feature new analyses of data from the EMPOWUR 40-week extension trial of GEMTESA (vibegron) 75 mg, a Phase 3, randomized, double blind, active-comparator controlled multicenter study to evaluate long-term safety and efficacy in patients with symptoms of OAB. GEMTESA is approved by the U.S. Food and Drug Administration (FDA) for the treatment of OAB in adults with symptoms of UUI, urgency, and urinary frequency.

Overactive bladder remains a condition in need of additional treatment options. We look forward to sharing new data related to the use of GEMTESA in the OAB patient population as well as providing an initial read-out on the progress of our investigational gene therapy, URO-902, said Sef Kurstjens, M.D., Ph.D., Executive Vice President and Chief Medical Officer of Urovant Sciences. We believe that URO-902 could potentially offer a new treatment option for patients with overactive bladder who have been inadequately managed by oral pharmacologic therapy, if approved by the FDA. The two podium presentations on GEMTESA will also add to the scientific and medical communitys understanding of this important therapy.

Data on the potential novel gene therapy, URO-902, will be presented during Friday mornings plenary session:

Late-Breaking Abstract PLLBA-03, presented by Kenneth M. Peters, M.D., principal investigator, and Chief of the Department of Urology at Beaumont Hospital, Royal Oak; Medical Director of the Beaumont Womens Urology and Pelvic Health Center and professor and Chair of Urology of the Oakland University William Beaumont School of Medicine in Rochester, Michigan., titled, Efficacy and Safety of a Novel Gene Therapy (URO-902; pVAX/hSlo) in Female Patients with Overactive Bladder and Urge Urinary Incontinence: Results from a Phase 2a Trial. This presentation will take place on Friday, May 13, at 11:21 to 11:29 a.m. CDT during the plenary session in the Ernest N. Morial Convention Center, Great Hall A.

Data on GEMTESA will also be featured in two podium presentations at the conference on May 15, 2022:

Abstracts are available in the Journal of Urology at the following links:

URO-902: https://www.auajournals.org/doi/10.1097/JU.0000000000002671.03

EMPOWUR-EXT older adults: https://www.auajournals.org/doi/10.1097/JU.0000000000002596.11

EMPOWUR-EXT PRO: https://www.auajournals.org/doi/10.1097/JU.0000000000002596.12

About the Phase 2a Study of URO-902

This 48-week multicenter, randomized, double blind, placebo-controlled, dose-escalation study will evaluate the efficacy, safety, and tolerability of a single administration of URO-902, a novel gene therapy being developed for patients with OAB who have failed oral pharmacologic therapy. URO-902 is administered via direct intradetrusor injections via cystoscopy into the bladder wall under local anesthesia in patients who are experiencing OAB symptoms and UUI.

The Phase 2a trial includes 80 female patients in two cohorts. The first cohort received either a single administration of 24 mg of URO-902 or matching placebo into the bladder wall, and the second cohort received 48 mg of URO-902 or matching placebo into the bladder wall. Patients will be followed for up to 48 weeks after initial administration. Exploratory endpoints included change from baseline to week 12 in mean daily micturitions, urgency episodes, UUI episodes, and quality of life measures, as well as assessing the safety and tolerability of this investigational gene therapy for OAB.

About URO-902

URO-902 has the potential to be the first gene therapy for patients with OAB. If approved, this innovative treatment has the potential to address an unmet need for patients who have failed oral pharmacologic therapies.

About the EMPOWUR Trial

The EMPOWUR trial was an international, randomized, double-blind, placebo and active comparator-controlled Phase 3 clinical trial evaluating the safety and efficacy of investigational vibegron in men and women with symptoms of overactive bladder, including frequent micturition, urgency, and UUI. A total of 1,518 patients were randomized across 215 study sites into one of three groups for a 12-week treatment period with a four-week safety follow-up period: vibegron 75 mg administered orally once daily; placebo administered orally once daily; or tolterodine ER 4 mg administered orally once daily.

About the 40-Week EMPOWUR Extension

The EMPOWUR 40-week extension trial was a Phase 3, randomized, double blind, active-comparator controlled multicenter study to evaluate the long-term safety and efficacy of vibegron in patients with symptoms of overactive bladder. The extension study enrolled approximately 500 EMPOWUR completers. The primary endpoint was safety, measured by incidence of adverse events. Secondary endpoints were changes from EMPOWUR baseline at week 52 in average daily micturitions, UUI, urgency, and total urinary incontinence.

About Overactive Bladder

Overactive bladder (OAB) is a clinical condition that occurs when the bladder muscle contracts involuntarily. Symptoms may include urinary urgency (the sudden urge to urinate that is difficult to control), urgency incontinence (unintentional loss of urine immediately after an urgent need to urinate), frequent urination (usually eight or more times in 24 hours), and nocturia (waking up more than two times in the night to urinate).1

Approximately 30 million Americans suffer from bothersome symptoms of OAB, which can have a significant impairment on a patients day-to-day activities.1, 2

About GEMTESA

GEMTESA is a prescription medicine for adults used to treat the following symptoms due to a condition called overactive bladder:

It is not known if GEMTESA is safe and effective in children.

IMPORTANT SAFETY INFORMATION

Do not take GEMTESA if you are allergic to vibegron or any of the ingredients in GEMTESA.

Before you take GEMTESA, tell your doctor about all your medical conditions, including if you have liver problems; have kidney problems; have trouble emptying your bladder or you have a weak urine stream; take medicines that contain digoxin; are pregnant or plan to become pregnant (it is not known if GEMTESA will harm your unborn baby; talk to your doctor if you are pregnant or plan to become pregnant); are breastfeeding or plan to breastfeed (it is not known if GEMTESA passes into your breast milk; talk to your doctor about the best way to feed your baby if you take GEMTESA).

Tell your doctor about all the medicines you take, including prescription and over-the-counter medicines, vitamins, and herbal supplements. Know the medicines you take. Keep a list of them to show your doctor and pharmacist when you get a new medicine.

What are the possible side effects of GEMTESA?

GEMTESA may cause serious side effects including the inability to empty your bladder (urinary retention). GEMTESA may increase your chances of not being able to empty your bladder, especially if you have bladder outlet obstruction or take other medicines for treatment of overactive bladder. Tell your doctor right away if you are unable to empty your bladder.

The most common side effects of GEMTESA include headache, urinary tract infection, nasal congestion, sore throat or runny nose, diarrhea, nausea, and upper respiratory tract infection. These are not all the possible side effects of GEMTESA. For more information, ask your doctor or pharmacist.

Call your doctor for medical advice about side effects. You may report side effects to FDA at 1-800-FDA-1088.

Please click here for full Product Information for GEMTESA.

About Urovant Sciences

Urovant Sciences is a biopharmaceutical company focused on developing and commercializing innovative therapies for areas of unmet need, with a dedicated focus in Urology. The Companys lead product, GEMTESA(vibegron), is an oral, once-daily (75 mg) small molecule beta-3 agonist for the treatment of adult patients with overactive bladder (OAB) with symptoms of urge urinary incontinence, urgency, and urinary frequency. GEMTESA was approved by the U.S. FDA in December 2020 and launched in the U.S. in April 2021. GEMTESA is also being evaluated for the treatment of OAB in men with benign prostatic hyperplasia. The Companys second product candidate, URO-902, is a novel gene therapy being developed for patients with OAB who have failed oral pharmacologic therapy. Urovant Sciences, a wholly-owned subsidiary of Sumitovant Biopharma Ltd., intends to bring innovation to patients in need in urology and other areas of unmet need. Learn more about us at http://www.urovant.com or follow us on Twitter or LinkedIn.

About Sumitovant Biopharma

Sumitovant is a global biopharmaceutical company leveraging data-driven insights to rapidly accelerate development of new potential therapies for unmet patient conditions. Through our unique portfolio of wholly-owned Vant subsidiariesUrovant, Enzyvant, Spirovant, Altavantand use of embedded computational technology platforms to generate business and scientific insights, Sumitovant has supported the development of FDA-approved products and advanced a promising pipeline of early-through late-stage investigational assets for other serious conditions. Sumitovant, a wholly-owned subsidiary of Sumitomo Pharma, is also the majority-shareholder of Myovant (NYSE: MYOV). For more information, please visit our website at http://www.sumitovant.com

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Urovant Sciences to Present Interim Data from Phase 2a Study of Potential Novel Gene Therapy, URO-902, and New Analyses of Data from Phase 3 EMPOWUR...

COPENHAGEN, Denmark, April 20, 2022 /PRNewswire/ --SNIPR BIOME ApS, a leading CRISPR and microbiome gene therapy biotechnology company, today announced dosing of the first human subjects in its phase 1 clinical trial with SNIPR001, an orally administered CRISPR-based therapeutic.

The purpose of the study is to investigate safety and tolerability of SNIPR001 in healthy volunteers and to evaluate the effect of SNIPR001 on reducing E. coli colonization in the gut. The study plans to enroll 36 healthy volunteers for multiple ascending dosing of SNIPR001 (NCT05277350). SNIPR001 has been granted Fast-Track designation by the FDA and is being developed in collaboration with the US non-profit organization CARB-X.

With the initiation of the First-in-Human study SNIPR BIOME becomes a clinical stage company. The experimental CRISPR therapeutic, SNIPR001, is designed to selectively target and eradicate E. coli in the gut, thus preventing translocation of these bacteria to the bloodstream, in a high-risk population of hematological cancer patients at risk for neutropenia. This precision approach could transform the wayE. coliinfections are prevented and treated, especially in the cancer ward. Today, there are no approved therapies for prophylactic therapy in this setting.

"Today, is a very special moment for SNIPR BIOME. For the first time ever, we are dosing a CRISPR-drug candidate in humans. Getting to this point is a major achievement and I am extremely proud of the whole SNIPR BIOME team, our collaborators, and advisors and especially our skilled CMC partner, Jafral, for their relentless effort in successfully bringing our first CRISPR-medicine into humans. However, this is only the beginning, and we truly believe that SNIPR001 could have the potential to help hematological cancer patients at increased risk of life-threatening bloodstream infections caused by multidrug resistant E. coli", says Dr. Christian Grndahl, Co-founder & CEO.

Dr. Milan Zdravkovic, Chief Medical Officer and Head of R&D at SNIPR Biome, comments: "We are excited about having brought our first asset into humans and expect top line results around year-end. We are in parallel pursuing our pipeline of CRISPR-medicines of exciting targets within oncology, immunology and cardio-metabolism, and have an ambition of selecting the next molecule from our pipeline to move into IND enabling studies also by the end of this year"

For more information, please contact:

Christian Grndahl, Dr.Med, Co-founder & CEOE-mail: [emailprotected] Mobile: +45 20202747www.sniprbiome.com

Please follow us on LinkedIn & Twitter: @sniprbiome

About SNIPR BIOME

SNIPR BIOME is a leadingCRISPR,and microbiome biotech company incorporated in Copenhagen, Denmark. SNIPR BIOME is engaged in the discovery and development of CRISPR/Cas-based medicines deploying its proprietary and patent-protected CRISPR/Casplatform. The company applies its CRISPR technologies to selectively target microbial pathogens and remodel the microbiome to address important unmet medical needs. SNIPR BIOME is pioneering a novel use of CRISPR/Castechnology to selectively and precisely eradicate target bacteria, while leaving the rest of the patient's microbial community intact. SNIPR BIOME was recently awarded a several million-dollar grant by CARB-X for CRISPR-based treatment ofhaematologicalcancer patients at risk of neutropenic fever and life-threating infections (SNIPR001). In addition, SNIPR BIOME and The University of Texas MD Anderson CancerCenterhas a strategic collaboration agreement to advance new CRISPR-based microbiome therapeutics to reduce immune-related adverse events (irAE) in patients being treated with combined immune checkpoint inhibitors. The company also develops proprietary technologies forin situproduction of therapeutics in the human microbiome. SNIPR BIOME and Novo Nordisk recently entered into a research agreement on an undisclosed target to evaluate this technology for gene therapy of the microbiome i.e.,in situproduction of therapeutics in the human microbiome. SNIPR BIOME holds an extensive portfolio of granted patents protecting CRISPR modification of microbiota as an adjunct to cancer therapy, vaccine therapy and other immunotherapies. In March 2019, SNIPR BIOME closed a $50 million Series A financing byLundbeckfondenEmerge (Copenhagen), Life Sciences Partners (Amsterdam), North-East Family Office (Copenhagen) and Wellington Partners (Munich).

For more details, please visit:www.sniprbiome.comand follow us on LinkedIn & Twitter: @sniprbiome

About CARB-X

CARB-X (Combating Antibiotic-Resistant Bacteria Biopharmaceutical Accelerator) is a global non-profit partnership dedicated to supporting early development antibacterial R&D to address the rising threat of drug-resistant bacteria. CARB-X is led by Boston University and funding is provided by the Biomedical Advanced Research and Development Authority (BARDA), part of the Office of the Assistant Secretary for Preparedness and Response (ASPR) in the US Department of Health and Human Services; the Wellcome Trust, a global charity based in the UK working to improve health globally; Germany's Federal Ministry of Education and Research (BMBF); the UK Department of Health and Social Care's Global Antimicrobial Resistance Innovation Fund (GAMRIF) funded by the UK Government Department of Health and Social Care (DHSC); the Bill & Melinda Gates Foundation, and with in-kind support from National Institute of Allergy and Infectious Diseases (NIAID), part of the US National Institutes of Health (NIH) within the US Department of Health and Human Services. CARB-X is investing up to US$480 million from 2016-2022 to support innovative therapeutics, preventatives and rapid diagnostics. CARB-X funds only projects that target drug-resistant bacteria highlighted on the CDC's Antibiotic Resistant Threats list, or the Priority Bacterial Pathogens list published by the WHO, with a priority on those pathogens deemed Serious or Urgent on the CDC list or Critical or High on the WHO list. CARB-X is headquartered at Boston University School of Law. https://carb-x.org/. Follow us on Twitter @CARB_X

Disclaimer

Research reported in this press release is supported by CARB-X. CARB-X's funding for this project is sponsored by the Cooperative Agreement Number IDSEP160030 from ASPR/BARDA and by an award from the Wellcome Trust. The content is solely the responsibility of the authors and does not necessarily represent the official views of CARB-X or any of its funders.

This information was brought to you by Cision http://news.cision.com

https://news.cision.com/snipr-biome-aps/r/snipr-biome-initiates-first-in-human-clinical-trial-with-snipr001,c3548589

The following files are available for download:

SOURCE SNIPR Biome ApS

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SNIPR BIOME Initiates First-in-Human Clinical Trial with SNIPR001 - PR Newswire

Data Highlights Clinical Utility of CareDx Solutions, Including Findings from Surveillance HeartCare Outcomes Registry (SHORE) Demonstrating Power of Multimodality Assessment for More Precise Interventions

CareDx Symposia Feature Latest Advancements Including XenoSure and XenoMap

SOUTH SAN FRANCISCO, Calif., April 20, 2022 (GLOBE NEWSWIRE) -- CareDx, Inc. (Nasdaq: CDNA) The Transplant Company focused on the discovery, development, and commercialization of clinically differentiated, high-value healthcare solutions for transplant patients and caregivers today announced a leading presence at the International Society for Heart and Lung Transplantation (ISHLT) Annual Meeting and Scientific Sessions, with over 25 oral presentations and posters covering the latest innovations in heart and lung transplant surveillance and two symposia. ISHLT 2022 takes place on April 27-30 in Boston, Massachusetts.

CareDx showcases its leadership in heart and lung transplant patient care with a significant body of evidence highlighting the value of its diagnostic tools for heart and lung transplant recipients. Notably, oral presentations covering interim findings from the SHORE (Surveillance HeartCare Outcomes Registry) observational study will be presented, highlighting the value of multimodality assessment of heart transplant health for assessing the risk of rejection and de novo donor-specific antibodies (dnDSA). Additionally, CareDx symposia will spotlight leaders in the field delivering cutting-edge content using multimodality solutions, HeartCare, AlloMap gene-expression profiling, and AlloSure donor-derived cell-free DNA (dd-cfDNA).

CareDx is proud of its history of innovation in cardiothoracic transplantation, with many firsts, from multimodality molecular assessment of allograft health, to donor-derived cell-free DNA for lung transplantation, to recently introducing, XenoSure and XenoMap, for investigational use in xenotransplantation research, said Reg Seeto, CEO and President of CareDx. Its extremely rewarding to have another remarkable presence at this years ISHLT meeting with extensive data elucidating the clinical value of integrating CareDx solutions and multimodality assessments into clinical practice.

The initial findings from the SHORE study build upon a growing literature that supports non-invasive surveillance of heart transplant patients with AlloSure donor-derived cell-free DNA and AlloMap gene-expression profiling. These studies provide a more comprehensive assessment of the health of the transplanted heart, which will hopefully lead to better outcomes for our patients through more tailored management strategies and earlier detection of graft injury, said Dr. Jeffrey Teuteberg, MD, Cardiologist, and Associate Professor of Cardiovascular Medicine, Stanford Health Care. Multimodality surveillance using both dd-cfDNA and gene-expression profiling may prove to be a better marker of immune quiescence or activation than endomyocardial biopsy (EMB) and questioning the place of the EMB as the gold standard for cardiac allograft monitoring.

CareDx Lunch Symposia:

For more detailed agendas for the lunch symposia, please follow this link.

The following heart and lung transplant data will be presented:

About CareDx The Transplant CompanyCareDx, Inc., headquartered in South San Francisco, California, is a leading precision medicine solutions company focused on the discovery, development and commercialization of clinically differentiated, high-value healthcare solutions for transplant patients and caregivers. CareDx offers testing services, products, and digital healthcare solutions along the pre- and post-transplant patient journey and is the leading provider of genomics-based information for transplant patients. For more information, please visit: http://www.CareDx.com.

Forward Looking StatementsThis press release includes forward-looking statements related to CareDx, Inc., including statements regarding the potential benefits and results that may be achieved with CareDxs leading presence at the ISHLT Annual Meeting and Scientific Sessions, including oral presentations covering interim findings from the SHORE observational study and the CareDx symposia (the CareDx ISHLT Leadership). These forward-looking statements are based upon information that is currently available to CareDx and its current expectations, speak only as of the date hereof, and are subject to risks and uncertainties that could cause actual results to differ materially from those projected, including risks that CareDx does not realize the expected benefits of the CareDx ISHLT Leadership; risks that the findings of SHORE study may not be accurate; risks that ISHLT 2022 and the agendas of CareDx symposia fail to take place as planned; general economic and market factors; and other risks discussed in CareDxs filings with the SEC, including the Annual Report on Form 10-K for the fiscal year ended December 31, 2021 filed by CareDx with the SEC on February 24, 2022, and other reports that CareDx has filed with the SEC. Any of these may cause CareDxs actual results, performance or achievements to differ materially and adversely from those anticipated or implied by CareDxs forward-looking statements. CareDx expressly disclaims any obligation, except as required by law, or undertaking to update or revise any such forward-looking statements.

CONTACTS:CareDx, Inc.Sasha KingChief Marketing Officer415-287-2393sking@caredx.com

Investor RelationsIan Cooney(415) 722-4563investor@CareDx.com

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CareDx Showcases Leadership with Over 25 Oral Presentations and Posters at the International Society for Heart and Lung Transplantation Meeting -...