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FFB-Funded Scientists Report on Nine Promising Translational Research Efforts

Translational research — moving promising science out of laboratories and into clinical trials — is essential to getting vision-saving, retinal-disease treatments out to the millions who need them. With that said, translational research is also costly and high risk and requires extensive clinical development and regulatory knowledge.

The Foundation Fighting Blindness has taken the translational challenge head on by investing more than $75 million in therapy-development projects with strong clinical-trial potential through its Translational Research Acceleration Program (TRAP), which includes Gund-Harrington Scholar Awards.
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Twelve People Receive XLRS Gene Therapy in AGTC’s Clinical Trial

Applied Genetics Technology Corporation (AGTC) reported that its gene therapy for X-linked retinoschisis (XLRS) has performed encouragingly in a Phase I/II, safety-oriented clinical trial taking place at seven sites in the U.S.

XLRS is an inherited disease that leads to significant vision loss due to splitting of the layers of the retina. The condition affects about 35,000 males in the U.S. and Europe. XLRS is caused by mutations in the gene retinoschisin. AGTC’s gene therapy uses a human-engineered virus — and adeno-associated virus or AAV — to deliver normal copies of retinoschisin to the patient’s retina.
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SparingVision Formed to Advance Sight-Saving Protein for RP

L to R: Florence Allouche Ghrenassia, PharmD, President, SparingVision; Frédérique Vidal, French Minister of Higher Education, Research and Innovation; José-Alain Sahel, MD, Co-Founder, SparingVision and Fondation Voir & Entendre; David Brint, and Chairman, Foundation Fighting Blindness; and Laure Reinhardt, Deputy CEO, Bpifrance

L to R: Florence Allouche Ghrenassia, PharmD, President, SparingVision; Frédérique Vidal, French Minister of Higher Education, Research and Innovation; José-Alain Sahel, MD, Co-Founder, SparingVision and Fondation Voir & Entendre; David Brint, Chairman, Foundation Fighting Blindness; and Laure Reinhardt, Deputy CEO, Bpifrance

The development of a vision-saving treatment for people with retinitis pigmentosa (RP) is getting a major boost thanks to the formation of the French biotech SparingVision to move it into a clinical trial and out to the international marketplace.

A spin-off of the Institut de la Vision, SparingVision was established to clinically develop and commercialize a protein known as rod-derived cone-viability factor (RdCVF). The emerging therapy performed well in several previous lab studies funded by the Foundation Fighting Blindness. SparingVision’s goal is to launch a clinical trial for the protein in 2019.
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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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