New gene therapy success holds promise for degenerative retinal diseases
Gene therapy researchers at UMass Medical School focused on degenerative retinal diseases are calling a promising new study out of University of Oxford the "...
By: UMass Medical School
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New gene therapy success holds promise for degenerative retinal diseases - Video
SCIENTISTS in Florida, USA, are studying gene therapy to cure genetic eye diseases.
Prof. Galileo Encabo, senior biological scientist at the Department of Opthalmology of the University of Florida, said they have conducted successful human clinical trials, but it would take years before the technology can be made available to the public.
From clinical trials, it takes a few years to make it available for public use. We will have to find a pharmaceutical firm willing to produce (the technology), then we have to get approval from the different bureaucrats, Encabo told reporters.
Gene therapy is the introduction of new genes into human cells to treat a disease. It involves replacing, correcting or removing an abnormal gene.
Encabo held a seminar at the University of the Philippines Cebu yesterday. He was a graduate and a former professor of the university.
The two-hour seminar, held at the UP Cebu Union building, was organized by the UP Cebu Central Visayas Studies Center in partnership with the universitys Sciences Cluster.
It aims to inspire students to pursue studies on molecular genetics.
The University of Florida is collaborating with 65 other institutions in its research on gene therapy.
Encabo said the persons who were subjected to the clinical trials improved their vision, with some increasing their visual ability 10,000 times.
The success of the human clinical trials, he said, will attract more private organizations to support the experiments and validate the whole concept of human gene therapy.
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As part of my 2014 predictions, I argued gene therapy would get hot and investor interest would turn toward the monogenic programs at Sangamo Biosciences (SGMO). The partnership announced on Jan. 9 between Biogen Idec (BIIB) and Sangamo confirmed my prediction to a certain extent, albeit sooner in the year than I expected.
Let's discuss what the Biogen partnership means for Sangamo moving forward, and discuss the implications for other gene therapy stocks like Bluebird (BLUE) and Acceleron (XLRN)?
The partnership covers two Sangamo programs: sickle cell disease (SCD) and beta-thalassemia (BT). Sangamo will receive a $20 million upfront payment and is eligible for just about $300 million in future milestones. While it is not explicitly stated, $15 million of those milestones appear to be related to the start of a phase I trial. Sangamo will receive double-digit royalties on sales and retains the right to co-promote in the U.S., assuming drug approval, of course.
Summed up, the new partnership is a nice entry into the gene therapy business for Biogen and continued validation of the Sangamo monogenic disease pipeline.
Sobek has no position in any stocks mentioned in this column.
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The State of Gene Therapy in a Biogen Idec World: Sangamo, Bluebird and Acceleron
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22-Jan-2014
Contact: Kim Blakely krb13@uw.edu 206-685-1323 University of Washington
Preclinical studies show that gene therapy can improve muscle strength in small- and large-animal models of a fatal congenital pediatric disease known as X-linked myotubular myopathy. The results, appearing in the Jan. 22 issue of Science Translational Medicine, also demonstrate the feasibility of future clinical trials of gene therapy for this devastating disease.
Researchers, based at the University of Washington, Seattle, Washington, Gnthon, France, Boston Children's Hospital in Massachusetts, and Virginia Polytechnic Institute and State University (Virginia Tech) in Blacksburg, Virginia, conducted the study. The scientists found that both mice and dogs responded from a single intravascular injection of AAV, produced at Gnthon, with robust improvement in muscle strength, corrected muscle structure at the microscopic level, and prolonged life. No toxic or immune response was observed in the dogs.
These results demonstrate the efficacy of gene replacement therapy for myotubular myopathy in animal models and pave the way to a clinical trial in patients.
Children born with X-linked myotubular myopathy, which affects about 1 in 50,000 male births, have very weak skeletal muscles, causing them to appear floppy, with severe respiratory difficulties. Survival beyond birth requires intensive support, often including tube feeding and mechanical ventilation, but effective therapy is not available for patients, and most die in childhood.
Alan H. Beggs of Boston Children's Hospital, co-senior author on the paper, has studied the mutated gene, known as MTM1, for many years and previously showed that replacing missing myotubularin protein effectively improved MTM muscles' ability to contract.
Based on seminal work on local and systemic administration in a mouse model of the disease performed by Anna Buj-Bello at Gnthon since 2009, Martin K. Childers, a professor of rehabilitation medicine and a regenerative medicine researcher at the University of Washington, worked with the Buj-Bello and Beggs groups.
They tested gene therapy using an engineered adenovirus vector, created by Gnthon. The vector is a vehicle for delivering a replacement MTM1 gene into cells. The researchers used two animal models: mice with an engineered MTM1 mutation and dogs carrying a naturally occurring MTM1 gene mutation. These mutant animals appear very weak with shortened lifespans, similar to patients with myotubular myopathy.
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Gene therapy leads to robust improvements in animal model of fatal muscle disease
Experimental eye treatment offers new hope for the blind
British researchers are testing a new form of gene therapy that has helped some blind people see. The operation replaces the defective gene inside of the eye...
By: CBSNewsOnline
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Experimental eye treatment offers new hope for the blind - Video
Gene Therapy Surprisingly Helps Blind to See
In a recent study to confirm a new surgical procedure #39;s safety in treating a type of blinding disease, patients reported quick and lasting vision improvement. Gene therapy has a partially...
By: GeoBeats News
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Next Media: Gene therapy restores rare genetic blindness
A novel gene therapy developed by University of Oxford researchers may restore vision to patients with a previously incurable form of blindness. The results ...
By: The Malay Mail Online
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Next Media: Gene therapy restores rare genetic blindness - Video
Can Gene Therapy Cure Blindness?
Over the past decade, researches have been testing gene therapy on blind dogs in attempt to restore vision. Earlier this week, six patients in Oxford had thi...
By: DNews
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At age 10 Nick Tuftnell knew he was going to end up blind after being diagnosed with the genetic condition choroideremia.
The condition leads to the death of light-absorbing cells in the eye. The cells die because of a mutated gene in certain ocular cells, which eventually leads to blindness.
I knew my granddad had it. I remember seeing him in the latter stages of life and he was completely blind, said Tuftnell, now 38.
After his condition was confirmed, Tuftnell said he had nothing to do but wait for his eyesight to slowly dim and darken over time.
All the doctors could say is Your son is going to go blind, see you later, said Tufnell of receiving his diagnosis.
As he grew older his eyesight has diminished to the point where he can no longer drive due to poor peripheral vision and has severe difficulty moving around at night.
I cant walk around at night, its that bad, said Tuftnell. I dont have any peripheral visioneventually itll get like Im looking through toilet rolls.
Tuftnell said his doctors estimated that he had around ten years of useful vision left.
However, two years ago Tuftnell took part in a groundbreaking study where gene therapy was used to treat his deteriorating condition.
The results of the study were published last week in the Lancet Medical Journal.
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A video that shows a 13-year-old child kicking a soccer ball would be a fairly typical scene were it not for the fact that for much of his life he was profoundly blind. He is one of 12 patients that have received a gene therapy developed by Childrens Hospital of Philadelphias Center for Cellular and Molecular Therapeutics to reverse the effects of inherited retinal degeneration from mutations associated with the RPE65 gene.
Spark Therapeutics is a CHOP spinout thats advancing the gene therapy and other treatments through Phase 3 clinical trial and FDA submission.
The treatment is designed to address an unmet need for patients with inherited Lebers congenital amaurosis and retinitis pigmentosa. In an interview with MedCity News at the JP Morgan Healthcare conference, CEO Jeff Marrazzo likened the effects of retinal dystrophy to film that degrades in a camera that produces a blurry or distorted image.
Spark Therapeutics has enrolled 24 patients in a Phase 3 trial, including 16 in the treatment arm and eight in the control group. The open-label, randomized controlled trial will assess the safety and effectiveness of its therapy approach as a possible treatment for blindness caused by mutations of the RPE65 gene. Participants receive a subretinal injection and are monitored for any improvements to orientation, mobility and navigational ability, as well as performance on tests of visual and retinal function, according to the companys website. At the end of one year, subjects randomized to the non-intervention control group will cross over to receive vector injection. The Phase 3 trial means they can also treat patients as young as age 3, compared with earlier studies which have an age minimum of 8.
Marrazzo said Spark expects to have final data from the clinical trial available in the first half of 2015.
We are in the midst of a remarkable chapter in medicine right now, he said.
If successful, the company could have the first FDA-approved gene therapy and could contribute to Philadelphias profile as a life science center.
Separately, the company has a disruptive Hemophilia B gene therapy treatment and is currently enrolling patients in a Phase 1/2 study. Although the dosing schedule has not yet been defined, a patient in the current study has been able to go six months so far without receiving any infusions of traditional therapy.
The treatment delivers a disarmed adeno-associated virus carrying a healthy gene to the liver, where factor IX is normally produced. Marrazzo sees the treatment as having the potential to have a huge impact in reducing the doses of clotting factor that hemophiliacs need to take to avoid excessive bleeding. There are about 20,000 people with the condition in the U.S., according to the Centers for Disease Control.
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Spark’s gene therapy to reverse blindness hopes to be first commercialized therapy of its kind
Researchers Test New Gene Therapy To Treat Blindness
Researchers in the U.K. have tested a new technique that could cure a rare form of blindness and possibly help treat more common forms, as well.
By: NewsyScience
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Researchers Test New Gene Therapy To Treat Blindness - Video
Human Gene Therapy Celebrates 25 Years
Dr. James Wilson, Editor-in-Chief of Human Gene Therapy, shares exciting news around the Journal #39;s 25th Anniversary and how you can get involved in the celeb...
By: Mary Ann Liebert, Inc., publishers
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Gene therapy improves vision for patients facing blindness
Medical researchers in Oxford say they have managed to improve the sight of patients who were going blind because of a rare genetic disorder. Genes are injec...
By: fairfest
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Gene therapy improves vision for patients facing blindness - Video
By Thomas Moore, Health and Science Correspondent
Patients suffering from an inherited form of blindness have for the first time had their vision dramatically improved by gene therapy.
The first six patients to be given the experimental injections into the back of the eye were all able to see better in dim light.
And two of them were able to read more lines on an eye chart.
The patients were born with a genetic form of blindness called choroideremia, which affects 1 in 50,000 people, most of them boys, who start to lose their vision in late childhood.
But in a groundbreaking clinical trial, doctors at the Oxford Eye Hospital injected a harmless virus that had been engineered to carry a working copy of the gene that sufferers lack.
The trial was intended to confirm that the injections did not damage the delicate light-sensing cells in the retina.
But the gene therapy had an unexpected therapeutic benefit - and three more patients have now been treated with a higher dose.
Professor Robert MacLaren of Oxford University, who led the trial, said: "In truth we did not expect to see such dramatic improvements in visual acuity.
"It is still too early to know if the gene therapy treatment will last indefinitely, but we can say that the vision improvements have been maintained as long as we have been following up the patients, which is two years in one case."
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Gene therapy is the insertion of genes into an individual's cells and tissues to treat a disease, and hereditary diseases in which a defective mutant allele is replaced with a functional one.
Although the technology is still in its infancy, it has been used with some success.
Antisense therapy is not strictly a form of gene therapy, but is a genetically-mediated therapy and is often considered together with other methods.
In most gene therapy studies, a "normal" gene is inserted into the genome to replace an "abnormal," disease-causing gene.
A carrier called a vector must be used to deliver the therapeutic gene to the patient's target cells.
Currently, the most common type of vectors are viruses that have been genetically altered to carry normal human DNA.
Viruses have evolved a way of encapsulating and delivering their genes to human cells in a pathogenic manner.
Scientists have tried to harness this ability by manipulating the viral genome to remove disease-causing genes and insert therapeutic ones. Target cells such as the patient's liver or lung cells are infected with the vector.
The vector then unloads its genetic material containing the therapeutic human gene into the target cell.
The generation of a functional protein product from the therapeutic gene restores the target cell to a normal state. In theory it is possible to transform either somatic cells (most cells of the body) or cells of the germline (such as sperm cells, ova, and their stem cell precursors).
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For patients with choroideremia a rare form of progressive blindness there are no current treatment options that can help stop their visual degeneration. But now a new innovative procedure may be the key.
In a new study published in The Lancet, researchers used a novel gene therapy technique on choroideremia patients, which helped restore some of the sight they had already lost over the years. Gene therapy involves injecting patients with a vital gene that is either missing or defective in their genetic code.
Gene therapy is exciting; its a new type of medicine, lead author Robert MacLaren, a professor at the University of Oxford, told FoxNews.com. And what were doing is it on a very small scale, because were looking at a very straightforward gene to replace.
Caused by a mutation in the CHM gene on the X chromosome, choroideremia causes progressive blindness due to degeneration of the choroid, retinal pigment epithelium and retina. Patients with this disease can start their lives with perfect vision, but eventually start to experience problems with light sensitivity and peripheral vision as they age.
The condition, which affects 1 in every 50,000 people, ultimately leads to the death of the photoreceptor cells in the retina causing complete blindness in middle age.
Its like looking down through a telescope at a small central island of vision, MacLaren explained of the disorder. And by the time theyre in their 40s and 50s, they lose vision completely.
Because choroideremia is caused by a defect in a single gene, MacLaren believed that gene therapy could hold promise for patients with this form of progressive blindness. Additionally, because the cellular degeneration occurs so slowly, the researchers had a large window of opportunity in which they could test their treatment before complete visual loss occurred.
In order to fix the mutation found in choroideremia patients, MacLaren and his colleagues genetically altered an adeno-associated virus (AAV), so that it carried a corrective copy of the CHM gene.
The virus is a small biological organism, and its very good at getting into cells, MacLaren said. But rather than deliver the viruss DNA, weve taken out most of the viral DNA and instead put in the missing gene. So it releases the DNA into the nucleus its a single stranded DNA with the missing [CHM] gene.
The researchers injected their engineered virus into the retinas of six patients between the ages of 35 and 63, all of whom were experiencing different stages of choroideremia. Four of the patients still had good eyesight, though they had almost no peripheral vision, and the other two patients had already started to experience vision loss.
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By delivering gene therapies to patients before they go blind, doctors may be able to prevent the loss of many important light-detecting cells.
Light preserver: Robert MacLaren performs retinal surgery on a patient participating in a gene therapy experiment at the Oxford University Eye Hospital.
A new kind of gene therapy has reversed some vision loss in people born with a degenerative eye disease for which there is no existing treatment.
In a first for the field, the treatment can be given to some participants who still had 20/20 vision, albeit in a limited field of vision. By delivering gene therapy at an earlier stage, researchers hope to save more light-sensing cells in the retina.
We need to push gene therapy forward, to apply it before vision is gone, says Robert MacLaren, an ophthalmologist at the University of Oxford who led the study. When retinal damage gets to a certain point, its beyond repair.
MacLaren says earlier treatment could also be particularly important for conditions such as retinitis pigmentosa and age-related macular degeneration.
The surgical procedure employed put the precious remaining vision of patients in the trial at risk because it involved detaching delicate retina tissue in one of each participants eyes, but so far no problems have occurred since that surgery, the researchers report. Some participants report that theyre now able to detect more light, read more letters and numbers, and even see the stars at night. One patient, who before his treatment could not read any lines on an eye chart with his most affected eye, was able to read three lines with that eye following his treatment.
The condition addressed in the work is choroideremia, an eye disease that affects an estimated one in every 50,000 people. Because the gene that causes this disease is on the X chromosome, it primarily affects males. Starting in late childhood usually, the condition causes progressive narrowing or tunneling of vision and often ends in blindness. The condition gradually wipes out the light-detecting rods and cones in the retina.
The experimental treatment adds a working copy of the culpable gene to the retinal cells of patients born with a defective copy. The trial also involved an experimental way of delivering gene therapy to the eye. Each patients retina was first lifted, and the gene therapy was injected into the space created under the retina. MacLaren and colleagues report on the condition of six patients in a study published on Wednesday in the Lancet.
Other groups are also developing gene therapies for retinal diseases. This includes a group at Childrens Hospital of Philadelphia, which recently funded a new company to continue human trials of a treatment for Lebers Congenital Amaurosis, another inherited form of retinal degeneration (see New Gene Therapy Company Launches).
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Two adults with a rare disease that causes gradual loss of eyesight had their vision improved after being treated with a new gene therapy, according to preliminary results from a new study.
The study involved six patients ages 35 to 63 with choroideremia, an inherited condition with no cure that causes vision problems early in life, and eventually leads to blindness. Patients have a mutation in a gene called CHM, which causes light-sensitive cells in the eye to slowly stop working.
The goal behind the new gene therapy is to use a safe virus to deliver a working copy of the gene to the right part of the eye to prevent the cells from degenerating. [7 Diseases You Can Learn About From a Genetic Test]
The new study was an early test of the therapy in which the researchers aimed to carry out the treatment without causing damage to the eye. (Patients must have an eye surgery so that the virus can be injected under the retina with a fine needle).
The result showed that the treatment did not cause harm, and in fact, improved vision in a few of the patients.
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Six months after the treatment, four patients recovered the visual acuity (clearness or acuteness of vision) that they had before the surgery, and developed increased sensitivity to light. And two patients had improvements in vision: They were able to read two to four more lines on a sight chart.
"We did not expect to see such dramatic improvements in visual acuity," study researcher Robert MacLaren, of the Nuffield Laboratory of Ophthalmology at the University of Oxford in the U.K., said in a statement. It is still too early to know if the improvements will last, but they have so far been maintained for as long as two years, MacLaren said.
The study is the first to test gene therapy in patients before they'd experienced significant thinning of the retinal cells, MacLaren said.
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62-year-old Jonathan Wyatt was diagnosed at age 20 with choroideremia, a rare genetic disorder that causes progressive blindness. In recent years, he was unable to read. He was one of six patients in the gene therapy trial.
Jonathan Wyatt was diagnosed at age 20 with choroideremia, a rare genetic disorder that causes progressive blindness
CBS News
People with the disease lack a gene that helps the eye make a protein needed for normal vision. When scientists injected a copy of that gene into the eye, the retinal cells started producing the protein. All six patients had improved vision and two, including Wyatt, had dramatic results.
Robert Maclaren of Oxford University led the study.
Rather than taking a pill or proteins or tablets, were actually correcting the disease at the genetic level, Maclaren said. In other words, genetically modifying the patients who have the problems to put the gene back thats missing.
"Well, this is a game changer because this is something that's been hypothesized and worked on for almost two decades, Schwartz told CBS News. The eye is the perfect organ into which gene therapy can begin to be successful because it's small, the amount of medication that needs to go into the eye is low, it's relatively safe.
One way this therapy could be useful in patients with macular degeneration is to eliminate the need for monthly injections of drugs into the eye. A single gene treatment could teach the eye to produce the medicine itself, but more testing is needed.
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Thursday 16 January 2014 19.26
Pioneering gene therapy has restored vision to two men with a rare inherited eye disease who were told to expect to go blind.
Scientists hope early intervention with the surgical treatment will halt progression of the devastating disorder, choroideremia, before patients are robbed of their sight.
It is the first time gene therapy has successfully been applied to the light-sensitive photoreceptors of the retina, the digital camera at the back of the eye.
Preliminary results from the first six patients taking part in a Phase One trial surprised and delighted the Oxford University team.
Although the trial was only designed to test safety and dosages, two men with relatively advanced disease experienced dramatic improvements to their eyesight.
The researchers are now planning a larger Phase II trial that will focus on the therapy's effectiveness.
Professor Robert MacLaren, who led the gene therapy operations at Oxford Eye Hospital, said: "We're absolutely delighted with the results so far.
"It is still too early to know if the gene therapy treatment will last indefinitely, but we can say that the vision improvements have been maintained for as long as we have been following up the patients, which is two years in one case.
"In truth, we did not expect to see such dramatic improvements in visual acuity and so we contacted both patients' home opticians to get current and historical data on their vision in former years, long before the gene therapy trial started.
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