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Posts tagged X-linked retinitis pigmentosa

MeiraGTx Treats First Patient in XLRP Gene-Therapy Trial

MeiraGTx, a gene-therapy company in London and New York City, has treated its first patient in a gene-therapy clinical trial for people with X-linked retinitis pigmentosa (XLRP) caused by mutations in the gene RPGR. The Phase I/II study is taking place at Moorfields Eye Hospital in London. The safety-oriented trial will enroll 36 participants. Three dose levels of the therapy will be evaluated.

XLRP is a leading cause of inherited, progressive retinal degeneration and vision loss. The condition usually affects males, but is also diagnosed occasionally in females. Mutations in the gene RPGR cause about 70 percent of XLRP cases. RPGR mutations affect about 15,000 people in the United States and tens of thousands more around the world.
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Valproic Acid’s Effect Too Small in One-Year Clinical Trial

However, researchers identify a potentially powerful endpoint for evaluating emerging therapies in future studies.

Results from a clinical trial sponsored by the Foundation Fighting Blindness Clinical Research Institute (FFB-CRI) indicate that valproic acid, a drug approved by the U.S. Food & Drug Administration for seizure disorders, did not sufficiently preserve vision in people with autosomal dominant retinitis pigmentosa (adRP). FFB-CRI launched the 90-person study in 2010, because previous lab research, and a published clinical report involving a few patients, had suggested the drug might slow vision loss in people with adRP.
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First Patient Treated in XLRP Gene Therapy Clinical Trial

The surgical team prepares to inject the virus into the back of the eye of the patient A 29-year-old British man is the first person to be treated in a gene therapy clinical trial for X-linked retinitis pigmentosa (XLRP). Robert MacLaren, MD, the lead investigator for the trial taking place at the Oxford Eye Hospital in the United Kingdom, says the patient is doing well and has gone home. The trial is being run by Nightstar, a biopharmaceutical company in the U.K. developing therapies for inherited retinal diseases. As many as 24 patients will be enrolled in the 12-month trial.

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Retinal Researchers May Be Looking for You

A patient registers with My Retina Tracker.One of the biggest challenges in overcoming rare retinal diseases is, well, that they’re rare. There’s limited information about the conditions in humans, making it difficult for researchers to understand why they cause blindness and develop vision-saving treatments.
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A Surprising Number of Carrier Females are Affected by X-Linked Retinitis Pigmentosa

Calico catX-linked retinitis pigmentosa (XLRP) is an inherited retinal disease causing significant vision loss, sometimes complete blindness, in males. Females are often considered to be unaffected carriers of the condition, with a 50 percent chance of passing XLRP to their sons.
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Despite Blindness, the Peaches are Sweet in Paran

Ignacio, a farmer with RP, tends to his peach orchard in Peru.Paran, a village of 300 people tucked in the foothills of the Andes near Lima, Peru, is known for its sweet peaches, but also its high rate of blindness. About one in eight Paranos have lost their vision.

Until recently, the villagers never understood the cause of the affliction, though they suspected there might be a genetic component because it runs in families. However, most had never even received care from a doctor.
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ARVO 2014: Breaking the 50-Percent Barrier in Successful Genetic Screenings

While it makes perfect sense to get excited about the progress being made in developing sight-saving treatments and cures, we shouldn’t lose sight (no pun intended) of the importance of successfully diagnosing patients. Though some therapies under development will work independent of patients’ defective genes, knowing their mutation(s) opens the door to a precise diagnosis, a more accurate prognosis and a much better understanding of which emerging therapies might save or restore vision down the road. Participation in clinical, or human, trials often requires a genetic diagnosis as well.
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Getting the Right Diagnosis for a Retinal Disease

Research at the monitorDefinitive diagnoses for inherited retinal diseases don’t always come easy, even for the patients of the most knowledgeable doctors. Comments posted to this blog over the past year are a testament to that fact. Many readers are understandably frustrated by a doctor’s inability to determine exactly what retinal condition is affecting them or loved ones.
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