“When one door of happiness closes, another opens but often we look so long at the closed door that we do not see the one that has opened for us.”
- HELEN KELLER
This is a personal story of one man’s pursuit…and one young man’s victory.
For more than 45 years, the Gunds and The Foundation Fighting Blindness have been raising money for research and recruiting scientists into the field.
The urgent mission of the Foundation Fighting Blindness, Inc. is to drive the research that will provide preventions, treatments and cures for people affected by retinitis pigmentosa (RP), macular degeneration, Usher syndrome, and the entire spectrum of retinal degenerative diseases.
The treatments and cures are in sight.
Relevant facts - Gordon Gund/Retinitis Pigmentosa (RP)
- Gordon Gund was diagnosed with retinitis pigmentosa (RP) in the 1960s.
- RP is a group of rare, inherited genetic disorders that affect the retina’s ability to respond to light. People with retinitis pigmentosa experience a gradual decline in their vision because photoreceptor cells (rods and cones) die.
- Forms of RP and related inherited diseases include Usher syndrome, Leber’s congenital amaurosis, rod-cone disease, Bardet-Biedl syndrome, and Refsum disease, among others.
- RP affects roughly 1 in 4,000 people, both in the United States and worldwide. In the U.S. that is an estimated 100,000 people.
- Gordon Gund went blind in 1970 at age 30.
- The gene that caused Gordon Gund to go blind has yet to be identified.
- Gordon had no treatment available to him in the United States.
- Undeterred, the Gunds aggressively recruited scientists into the field, raised money for research, and worked to grow the FFB family of volunteers and donors to accelerate progress.
- The Foundation Fighting Blindness (FFB) was founded in 1971 by Gordon and Lulie Gund and others looking for answers and cures for blinding diseases.
- The genetic diversity of the diseases, the complexities of the retina itself, and the lack of expertise and resources to even properly diagnose patients were just some of the major barriers to moving the research forward.
- After decades of painstaking research to understand these retinal diseases and develop targets for treatments, potential therapies are moving into human studies, and have the potential to restore vision in people who were virtually blind. For about 100 people in clinical trials vision has already been improved. In addition, 20 clinical trials for potential treatments across the spectrum of inherited retinal diseases are underway and more are in the pipeline.
Relevant facts - Yannick Duwé/Leber’s Congenital Amaurosis (LCA)
- Yannick Duwé was born with a rare form of inherited blindness and RP known as Leber’s congenital amaurosis (LCA).
- About 10% of LCA cases are due to a mutation in retinal pigment epithelium 65 (RPE65), a gene that codes for an enzyme that helps retinal cells make rhodopsin. The pigment is needed by photoreceptor cells—the retina’s light-sending rods and cones—and when RPE65 is mutated, the photoreceptor cells gradually die.
- In 2008, Yannick Duwé became the first child patient worldwide to enroll in a clinical trial aiming to restore his vision through gene therapy.
Yannick’s surgeon, Dr. Albert Maguire, injected one of his eyes with a solution containing a harmless virus that ferried a good copy of RPE65 into the retinal cells. In 2012, they performed the surgery on the other eye.
- Yannick is the first child in the world to have blindness reversed using gene therapy.
About clinical trial
- 100 patients worldwide have now participated in similar clinical trials aiming to restore their vision
- Expected BLA to be filed with the FDA this year.
- If approved, this would be the first gene therapy for an inherited disease in the US. And the first gene therapy for an inherited retinal disease worldwide.
Further questions: RFarberman@Blindness.org / 410 423-0635