Choroideremia

New grants include development of CRISPR/Cas9 gene-editing treatments, new disease models, and a retinal regeneration therapy

The Foundation Fighting Blindness is closely monitoring the COVID-19 situation and its impact on the IRD community.

The Foundation Fighting Blindness is pleased to provide an audio recording and full transcripts of the Insights Forum, our quarterly conference call providing updates to the inherited retinal disease community. The call took place on January 31, 2020.

My Retina Tracker Program is the highest volume IRD genetic testing program in the U.S.

The Foundation Fighting Blindness is pleased to provide an audio recording and full transcript of the Insights Forum, our quarterly conference call providing updates to the inherited retinal disease community. The call took place on October 30, 2019.

The program will offer patients with inherited retinal disease no-cost genetic testing and genetic counseling in the United States. Look for updated information on how to participate to be posted in mid-October, with program registration starting shortly thereafter.

Bipartisan Bill Will Stimulate Up to $1 Billion in New Funding for Blindness Research

Bill Introduced in U.S. House Would Speed Up Cures for Blindness

The Foundation Fighting Blindness (the Foundation) and CheckedUp have formed a collaborative partnership to deliver patient-friendly diagnostic and disease-management information to people with retinal diseases such as age-related macular degeneration, retinitis pigmentosa, and Stargardt disease during their visits to eye doctors.

Additional results from the trial will be reported at a future scientific meeting

Gene therapy delivered by intravitreal injection

The goal of the partnership is to advance a PRPF31 gene therapy into a clinical trial

The benefits of genetic testing for IRD patients, how to participate in the Foundation’s Open Access program, and what to expect from the genetic testing process.

Retinal research paves the way for new treatments for the entire neurological system.

Dr. Zack is a member of the Foundation’s Scientific Advisory Board and chairs its Cellular Molecular Mechanisms of Disease study section.

Eye Bonds provide the opportunity to advance, and accelerate development for, more promising treatments into and through clinical trials and out to the people who need them.

Sofia Sees Hope, a nonprofit dedicated to finding treatments and cures for people with Leber congenital amaurosis (LCA) and other inherited retinal diseases (IRDs), has made a $100,000 donation to the Foundation Fighting Blindness to support therapy development and genetic testing.

The French bioelectronics company Pixium Vision has reported that its PRIMA bionic vision system has restored some central vision in patients with advanced dry age-related macular degeneration (AMD) participating in a clinical feasibility trial.

Since 1989 genetic researchers, many funded by the Foundation, have identified approximately 270 genes linked to IRDs. In most cases, defects in a single gene can cause a retinal disease and vision loss.

On September 4, 2018, seven researchers, including six previously funded by the Foundation, were recognized with the prestigious 2018 Antonio Champalimaud Vision Award for their contributions to the advancement of blindness-reversing RPE65 gene therapies.

Each recipient will receive a total of $375,000 over five years to help build an independent research program in addition to their clinical practices.

Seventy scientists submitted requests for funding.

Call to Action: Ask Congress to Support $1 Billion in Eye Research

Many research groups from around the world are investigating ways to create new photoreceptors from stem cells for transplantation into the retina for vision restoration.

Watch recorded sessions from VISIONS2018.

ARVO 2018: Dr. Stephen Daiger Reports on the State of Genetic Testing for Inherited Retinal Diseases

FFB’s own Dr. Steve Rose, chief scientific officer, reviews our commitment to funding and exploring CRISPR/Cas9 gene editing for inherited retinal disease.

More than 11,000 eye researchers from around the world — including five intrepid members from FFB’s science team — will gather to participate in what is essentially a massive “show and tell” of the latest scientific advancements.

Nightstar Therapeutics, a retinal-disease, gene-therapy development company in the UK, is advancing its emerging gene therapy for choroideremia into a Phase 3 clinical trial known as STAR. The study will enroll approximately 140 patients at 18 clinical sites in the US, Europe, Canada, and South America.

The French biotech GenSight Biologics has received regulatory authorization in the UK to launch the PIONEER Phase 1 \ 2 clinical trial for its GS030 system — a light-sensing gene therapy (optogenetics) coupled with eyewear, which enhances visual stimulation.

An exciting year in fighting blindness.

Known as LUXTURNA™ (voretigene neparvovec), the gene therapy restored vision in a clinical trial for people between the ages of 4 and 44 with Leber congenital amaurosis (LCA) caused by mutations in the gene RPE65.

If a clinic is charging for a stem-cell treatment or procedure for an IRD, it is probably not legit. The expense to the patient is a major red flag.

An advisory committee comprised of FDA-selected experts voted unanimously – 16 to 0 – to recommend approval.

In addition to funding promising biotech start-ups, the Foundation Fighting Blindness has played a critical role in developing research talent.

The high-tech, vision-restoring system interfaces with the visual cortex, the back of the brain where visual input is processed to create the images we see.

The partnership will help companies and researchers quickly obtain and implement high-quality vectors for their retinal gene-therapy development efforts.

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.

In its fourth year, the meeting is becoming the world’s most comprehensive overview of the promising research underway for emerging IRD treatments.

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

Dr. Berson dedicated himself to clinical care and vision-saving research for people with inherited retinal diseases for five decades.

“…participation in a study for an emerging therapy that is not regulated by the FDA or another well-recognized regulatory agency like the European Medicines Agency in Europe, is fraught with dangers and can lead to unexpected serious consequences.”

Company Builds on FFB’s Initial Investment to Garner $265 Million in Therapy Development Funding

Improved outcome measures will make clinical trials for degenerative retinal diseases — including age-related macular degeneration (AMD), the world’s leading cause of blindness in seniors, and inherited retinal conditions such as RP and Stargardt disease — less expensive to conduct and able to deliver more precise results.

Understanding the pathways of the retinal neural network — and how they are rewired with aging and disease — is helpful in trying to save and restore vision.

Dr. Shinya Yamanka discussed his early clinical trial for iPSC-derived retinal pigment epithelial (RPE) cells for a 78-year-old woman with advanced wet age-related macular degeneration (AMD).

The complex and elusive nature of these conditions can also extend to the way they are passed down in families, making diagnosis and prognosis quite challenging.

RetroSense’s optogenetic therapy is designed to restore vision to people who are completely blind from retinal degenerative diseases such as retinitis pigmentosa by bestowing light sensitivity to retinal ganglion cells, which survive after photoreceptors, the cells that make vision possible, are lost.

Both approaches show strong, near-term potential for providing meaningful vision to people who are otherwise blind from retinal diseases such as retinitis pigmentosa and age-related macular degeneration (AMD).

At VISIONS 2016, FFB’s national conference, the Foundation honored him with its Ed Gollob Board of Directors Award for breakthrough research conducted within the past year.

Dr. Weleber became the 10th recipient of the Foundation’s highest honor, named after FFB co-founder Lulie Gund, during the opening lunch of the VISIONS 2016 conference.

Subretinal injection is the most common form of delivery for gene therapies currently in clinical trials.

Aditya A. Guru, 16, used whole exome sequencing (WES), an innovative genetic-screening technology, to find the mutation.

Five of six patients in NightStaRx’s choroideremia gene-therapy trial continue to benefit from the treatment.

For those of us supporting the drive for vision-saving treatments and cures, he’s exactly the type of person we want on our team.

Dr. Boye received the Foundation’s Board of Director’s Award, which was presented at VISIONS 2015, FFB’s annual conference, for achievements in retinal research.

The mission of the program—to regenerate the neurons and neural connections in the eye and visual system—is synonymous with the Foundation’s mission to eradicate retinal diseases.

One of the hot topics at ARVO this year is a rapidly advancing gene-therapy approach called clustered regularly interspaced short palindromic repeats, or CRISPR.

An innovative genetic-engineering approach called “directed evolution” to find optimal gene-delivery systems based on adeno-associated viruses (AAVs).

The powerful and secure system enables patients to keep track of their clinical care and vision changes. At the same time, it enables scientists to search the “de-identified” (i.e., anonymous) patient information to study conditions and identify targets for treatments, preventions and cures.

Dr. Boye and her research team received a $900,000 grant for a gene therapy project targeting Leber congenital amaurosis.

Simply put, they’re creating therapies that can save vision in as many people as possible, independent of the genetic cause of disease.

Non-24 is a very rare condition affecting many (but not all) people who are totally blind and have absolutely no light perception. Their circadian clocks become out of sync as a result.

Researchers were able to improve vision in five of six people with choroideremia participating in a clinical trial.

The French retinal implant developer Pixium quietly launched a clinical trial for its Intelligent Retinal Implant System 1 (IRIS1) in France, Austria and Germany.

Identifying the genes and proteins that play a major role in retinal health and vision is an important step in finding preventions and cures for degenerative diseases.

Many registries enable patients to collect and track information about their health, so they can take an active role in managing their care.

There’s hope for retinal regeneration for humans, thanks to Foundation-funded researcher Dr. Thomas Reh, who is investigating how to derive new photoreceptors from retinal cells called Muller glia.

The goal, “to regenerate the neurons and neural connections in the eye and visual system,” is exactly what people with retinal diseases need to save and restore their vision.

A profile on Dr. Robert Langer, a medical researcher who has received dozens of awards, accolades and honorary degrees, including, recently, FFB’s Visionary Award.

Sometimes, saving vision simply comes down to keeping retinal cells alive, or at least slowing their degeneration.

More good news about treatments and technological advances for restoring vision for people with retinal diseases.

How do you know if a treatment is legit? There should be preclinical and clinical trial data published in a peer-reviewed journal on research for the treatment.

John-Ross Rizzo, a dedicated New York-based researcher, was confronted with life-altering news at a young age when he was diagnosed with choroideremia. Driven by the obstacles he faced due to his condition, he now stands as a key figure leading the development of advanced assistive technology, with the goal of reshaping the daily commutes of those with low vision and blindness.

Rollie and Sandie Purvis, parents of two sons with choroideremia, describe their sons’ film project, “Driving Blind.”