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Archive for the General Category

Researchers Find Mutation as Frequent Cause of RP in American Hispanics

A Foundation-funded research collaboration identified a mutation in the gene SAG as a frequent cause of autosomal dominant retinitis pigmentosa (adRP) in the American Hispanic population. Eight of the 22 Hispanic families with adRP in their whole-exome-sequencing study had the mutation. The discovery can help genetic experts diagnose more patients with adRP, and it gives researchers a target for developing potential therapies. Results of the SAG study were published in the journal Investigative Ophthalmology and Visual Science (IOVS).
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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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Forty-Four High-Impact Retinal-Research Efforts Highlighted at FFB-Casey Innovation Summit

For anyone wanting to know about the latest clinically focused research for inherited retinal diseases (IRDs), the Innovation Summit for Retinal Cell and Gene Therapy was the place to be.

In its fourth year, the meeting is becoming the world’s most comprehensive overview of the promising research underway for emerging IRD treatments. Hosted by the Foundation Fighting Blindness and Casey Eye Institute (Oregon Health & Science University), the Innovation Summit featured 44 information-packed presentations from research and industry leaders. Summit co-hosts were Casey’s Mark Pennesi, MD, PhD, and Trevor McGill, PhD, and Patricia Zilliox, PhD, chief drug development officer of FFB’s Clinical Research Institute. More than 250 researchers and industry leaders were in attendance. Spark Therapeutics was a sponsor of the event.
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Clinical Trial Authorized in the U.S. for Emerging LCA 10 Therapy

ProQR, a biotechnology company in the Netherlands, has received authorization from the U.S. Food and Drug Administration to start a Phase I/II clinical trial for its therapy known as QR-110, which is being developed for Leber congenital amaurosis type 10 (LCA 10). The genetic retinal condition causes severe vision loss in children. QR-110 targets the specific mutation p.Cys998X in the CEP290 gene, also known as c.2991+1655A>G mutation. It is estimated that it affects about 2,000 people in the Western world.

QR-110 was a featured topic at the annual meeting of the Association for Research in Vision and Ophthalmology (ARVO) in Baltimore, May 7-11. About 12,000 eye researchers and industry professionals attended the event.
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FFB Funding Helps Retinal Genetics Lab Secure $2 Million Investment

This is a great story of how the Foundation Fighting Blindness (FFB) provided timely funding of $155,000 to help my lab at the University of California, San Diego (UCSD), leverage a $2 million retinal-gene discovery project.

What is very rewarding for me is that FFB’s support helped us find the retinal-disease gene mutation in 33 families, who were otherwise left without a clear diagnosis. Now these families are better able to understand their prognosis and which clinical trials and future therapies may be most relevant to them.
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ID Your IRD: A Free Genetic Testing Program for Eligible People with Inherited Retinal Diseases


Genes are like the blueprint or code for determining who we are. We all have about 23,000 pairs of genes in most cells in our bodies. Many of our physical attributes — such as height, eye and hair color, and complexion — are determined by our genes.

However, certain misspellings, also known as mutations, in our genetic code can cause diseases or increase our risk for them. In fact, inherited retinal diseases are caused by mutations in single genes.
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jCyte Stem-Cell Therapy Moves into Phase IIb Clinical Trial for RP

These are retinal progenitors.

These are retinal progenitors.

The stem-cell therapy company jCyte is launching a Phase IIb clinical trial of its therapy for people with retinitis pigmentosa (RP). The trial is taking place at University of California, Irvine, and Retina-Vitreous Associates Medical Group in Los Angeles. The 70-participant study is being led by Henry Klassen, MD, PhD. Participant enrollment is scheduled to begin this month.

The treatment involves intravitreal injection of retinal progenitor cells (RPCs), which are stem cells that have partially developed into the retinal cells that make vision possible. Based on lab studies, researchers believe the treatment can preserve and potentially rescue the patient’s existing photoreceptors, thereby saving and possibly restoring vision.
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FFB-CRI Launching Natural History Study for People with USH2A Mutations

USH2A is a target for retinal-disease researchers, because mutations in the gene are the most common cause of Usher syndrome type 2, which causes combined vision loss from retinitis pigmentosa (RP) and hearing loss from inner ear dysfunction. Also, USH2A mutations are a leading cause of RP without hearing loss (i.e., non-syndromic).

A major challenge in providing prognoses for USH2A patients — and designing clinical trials for potential therapies — is the wide variability in the severity and rate of progression of the disease and its symptoms. Researchers have identified hundreds of USH2A mutations — misspellings in the patients’ genetic code. Some of these defects lead to RP only. Others cause Usher syndrome.
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Dr. Eliot Berson, Pioneer in Vitamin A Therapy for Retinitis Pigmentosa, Passes Away

No one in the retinal disease research community brought more passion and commitment to his or her work than Dr. Eliot Berson. As The William F. Chatlos Professor of Ophthalmology at Harvard Medical School, he dedicated himself to clinical care and vision-saving research for people with inherited retinal diseases for five decades. In addition to being a world-renowned clinical researcher and developer of vitamin A therapy for retinitis pigmentosa, he was beloved by his patients and their families for his hopeful and encouraging attitude toward their challenging, vision-robbing conditions.
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Unregulated Stem-Cell Therapy Causes Severe Vision Loss for Three Florida Women

A report today in The New England Journal of Medicine (NEJM) describes the cases of three women with age-related macular degeneration (AMD) who lost much of their eyesight after receiving ocular injections of stem cells derived from their own fat tissue. All of the women had good enough eyesight to drive before the procedures. Each paid $5,000 to receive the injections from a private clinic in Sunrise, Florida. The New York Times and other major media outlets have published news stories on the NEJM report.
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