Recent Scientific Advances
The Foundation Fighting Blindness drives the research that will provide preventions, treatments, and cures for people affected by retinal degenerative diseases. Foundation-funded scientists are innovative leaders in the development of highly promising genetic, pharmaceutical, cell-based, and nutritional therapies.
FFB/Industry Treatment Development Case Studies
AGTC Leverages Funding from Foundation Fighting Blindness to Garner Major Investments
In the early 1990s, scientists began discovering the genetic defects causing blinding, inherited retinal diseases and saw a unique opportunity to overcome them. They envisioned gene therapy — delivering healthy genes to the retina to replace the bad — as an elegant approach to saving and restoring vision. Furthermore, a single injection of gene therapy would likely halt or reverse the disease process and work effectively for several years, perhaps the patients’ lifetimes.
Research Investment from Foundation Fighting Blindness Supports Emerging Company to Bring Gene Therapy for Rare Blinding Disease Closer to Reality
Spark Therapeutics, a gene therapy company developing an investigational gene therapy for people living with RPE65-mediated inherited retinal diseases, is currently in the process of completing its biological licensing agreement (BLA) with the U.S. Food and Drug Administration (FDA). If approved, it would be the first gene therapy for any genetic disease to be approved in the United States. The treatment involves delivering a functional copy of a mutated gene directly to the retina. The hypothesis is that this functional copy of the gene produces the necessary protein to slow the progression of disease and restore function in the retinal cells.
Landmark Gene Therapy Restores Vision in Children and Young Adults
More than 100 children and young adults who were virtually blind have had some vision restored, thanks to an innovative gene therapy to cure a severe form of retinitis pigmentosa known as Leber congenital amaurosis (LCA) caused by mutations in the RPE65 gene. The individuals have participated in clinical trials of the treatment at The Children’s Hospital of Philadelphia (CHOP), Moorfields Eye Hospital in London, the Universities of Pennsylvania and Florida, and other centers around the world. One nine year-old boy has put away his white cane and can now see the blackboard at school. A young woman was able to see fireflies for the first time after receiving the treatment. The CHOP clinical trial, sponsored by Spark Therapeutics, completed its final phase in which participants between the age of 4 and 44 were better able to complete a mobility course after treatment. Thanks to these encouraging results, Spark will be seeking FDA approval for the gene therapy. If approved, it would be the first-ever FDA-approved gene therapy for the eye or an inherited disease. The Foundation funded much of the preclinical research that made these LCA gene-therapy clinical trials possible.
Company Launches Stem Cell Clinical Trial
ReNeuron, a stem-cell therapy development company in the United Kingdom, has received authorization from the U.S. Food and Drug Administration to launch a Phase I/II clinical trial of its stem cell therapy. The company is partnering with the Schepens Eye Research Institute, Massachusetts Eye and Ear Infirmary, to develop the treatment. The emerging therapy involves the transplantation of retinal progenitor cells — cells which haven’t completely developed into photoreceptors. The therapy may save or even restore vision in people with retinitis pigmentosa, Usher syndrome, and potentially other retinal diseases. The investigators recently treated their first patient. The Foundation funded decades of critical lab research to make the ReNeuron therapy possible.
Foundation Commits $2 Million to Development of a Cross-Cutting Drug Treatment
The Foundation Fighting Blindness has invested more than $2 million in Mitochem Therapeutics, a start-up company which, thanks to prior Foundation support, has identified compounds that appear to boost mitochondrial function and show potential for significantly slowing vision loss caused by a variety of retinal degenerations. Mitochondria are the power supplies for all cells. The goal is to determine which compound will work best in people with retinal diseases and move it into a clinical trial.
Vision-Restoring Bionic Retina Receives FDA Approval
The Argus II retinal prosthesis, a device that can restore some vision to people who are blind from advanced retinitis pigmentosa (RP) and other retinal conditions, has received market approval from the U.S. Food and Drug Administration and the European Medicines Agency. Developed by Second Sight Medical Products, the device is now being used by more than 100 people around the world. More than 20 years of research went into the development of the Argus II. The Foundation Fighting Blindness played a seminal role in its development, funding laboratory studies for an earlier version of the device.
Numerous Retinal-Disease Genes Identified — Critical for New Therapies
Geneticists have identified more than 260 genes with variations that result in retinal degenerative diseases. The identification of these genes is an important step in fully understanding why these diseases occur, and is also critical to the development of biopharmaceutical and gene therapies. Foundation researchers have contributed to this effort by identifying genetic variations causing several rare retinal diseases such as Bardet-Biedl syndrome, Leber congenital amaurosis and Usher syndrome.
Retinitis Pigmentosa and Related Diseases
Dietary Supplements Slow Vision Loss
Researchers funded by FFB report that a regimen consisting of vitamin A palmitate supplementation, consumption of oily fish high in the omega-3 fatty acid DHA, and lutein supplementation may slow loss of vision by 20-25 percent in people with certain forms of retinitis pigmentosa and Usher syndrome.
QLT Conducting Clinical Trial of RP and LCA Treatment
The biopharmaceutical company QLT has conducted an international clinical trial for its synthetic retinoid treatment for people with Leber congenital amaurosis (LCA) and retinitis pigmentosa (RP) caused by variations in the RPE65 or LRAT genes. Individuals with these genetic variations do not produce a retinoid critical for vision; QLT’s treatment serves as a replacement for that missing retinoid. QLT announced impressive results for their Phase IB clinical trial for people with LCA and RP. Patients responded well to the seven-day treatment, reporting some gains in acuity and/or size of their visual field. The investigators were encouraged that the effect of the week-long oral treatment persisted for several months. The company is now planning a Phase III clinical trial.
Usher Syndrome Gene Therapy Clinical Trial Underway
The first-ever gene therapy for Usher syndrome is in a Phase I/IIa clinical trial at the Casey Eye Institute, Oregon Health & Science University (OHSU), and the Centre Hospitalier National d’Ophtalmologie des Quinze-Vingts in Paris, France. Known as UshStat®, the treatment is being developed by the pharmaceutical company Sanofi. It’s designed to halt vision loss in people affected with Usher syndrome type 1B, which is caused by defects in the MYO7A gene. Based on results in lab studies, researchers believe a single UshStat treatment may last several years, perhaps a lifetime. The Foundation Fighting Blindness is funding the Paris site of the clinical trial and funded lab research that made the human study possible.
Emerging Treatment for Retinal Diseases Gets the Message Right
In about 12 percent of all retinal degenerative diseases, the translation of genetic messages (mRNA) for the production of critical proteins stops prematurely, leading to the production of nonfunctional proteins, and resulting in vision loss. In simple terms, it’s as if someone stops reading a sentence halfway through, and the resulting message doesn’t make sense. These translational errors are due to what is known as premature termination codons or PTCs. In a Foundation-funded study at the Johannes Gutenberg University in Mainz, Germany, Uwe Wolfrum, Ph.D., and his team are evaluating a drug that can “read through” PTCs in retinal cell cultures and mouse models of Usher syndrome type 1C. The drug enables the cell to read the complete message and make the right protein.
Lucentis™ Preserves Vision in People with Wet AMD
Developed by Genentech, Lucentis is effective in reducing the risk of losing vision from the abnormal blood vessel growth under the retina associated with wet AMD. The drug has been FDA approved since 2006. A two-year study showed that 95 percent of people with wet AMD who received monthly injections of Lucentis experienced no significant loss in visual acuity. Genentech also reported moderate visual improvement in 24.8 percent of participants treated with a 0.3 mg dose of Lucentis and 33.8 percent of participants treated with a 0.5 mg dose.
RetinoStat® Gene Therapy Performs Well in Clinical Trial
Oxford BioMedica, a gene therapy company in the United Kingdom, is conducting a Phase I clinical trial of its gene therapy for the treatment of wet AMD. Known as RetinoStat, the treatment works by blocking the growth of leaky, unhealthy blood vessels under the retina that cause vision loss in wet AMD. The study is taking place at the Wilmer Eye Institute at Johns Hopkins. Earlier research funded by FFB made this trial possible. Early study results indicate the therapy is, in fact, halting the growth of vision-robbing blood vessels.
Genes linked to 74 percent of AMD cases
FFB-funded researchers have linked variations in three genes to as many as 74 percent of all cases of age-related macular degeneration (AMD). The identification of these genetic variations is giving researchers targets for developing more effective treatments and demonstrates the role that genetics play in AMD.
Gene Therapy Clinical Trial Underway for Stargardt Disease
The first-ever gene therapy clinical trial for Stargardt disease is underway at Oregon Health & Science University’s (OHSU) Casey Eye Institute in Portland and the Hopital Nationale des Quinze-Vingt in Paris, France. Known as StarGen™, the treatment is being developed by the pharmaceutical company Sanofi. The Foundation Fighting Blindness funded many of the pivotal lab studies that are making the StarGen gene therapy clinical trial possible.
Foundation Partnering with Vision Medicines to Develop Pharmaceutical Therapy
The Foundation and the biopharmaceutical company Vision Medicines are partnering to develop a drug known as VM200 for preserving vision in people with Stargardt disease. The Foundation is investing as much $7.5 million to co-fund VM200 development. Vision Medicines plans to launch a human study of the emerging therapy in 2017. VM200 neutralizes toxic chemicals in the retina that are responsible for progressive retinal damage in Stargardt disease.
Stargardt Disease Natural History Study Will Help Prepare for Future
The Foundation Fighting Blindness Clinical Research Institute has launched a natural history study of people affected by Stargardt disease. Known as ProgSTAR, the study has three primary goals: 1) Determine the best outcome measures to accelerate evaluation of emerging treatments, 2) Better understand disease progression for selecting future clinical trial participants, and 3) Identify potential participants for forthcoming clinical trials. The study has enrolled approximately 250 patients in 10 international clinical centers.
Vision Improvements Reported in Choroideremia Gene Therapy Clinical Trial
Initial results for the groundbreaking choroideremia gene therapy clinical trial conducted by Oxford University researchers in the United Kingdom are very encouraging. The emerging treatment has been safe thus far. In addition, five of six participants in the initial study group have sustained vision preservation or improvements in their treated eyes for more than three years. The two patients who entered the trial with the worst visual acuity showed significant improvements in reading an eye chart. The Foundation Fighting Blindness provided funding over two decades for lab studies that helped make the choroideremia gene therapy clinical trial possible.