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

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 July 30, 2020.

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

People with disabilities are no different from anyone else. We all have strengths and challenges, and we all seek to be fully engaged in society. Treating blind people differently, either as incapable of conducting everyday tasks in life, or conversely, acting as though our ability to conduct even the most mundane chore is remarkable can be discouraging.

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.

Known as Pro-EYS, the study will help researchers design clinical trials for potential therapies

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.

A discussion of strategies concerning the development of autosomal dominant disease therapies at the Translational Research Acceleration Program (TRAP) in November 2013.

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.

AN EMERGING, vision-restoring gene therapy for a devastating retinal disease is poised for Food and Drug Administration (FDA) approval. If it gets the regulatory nod, it will be the first gene therapy to receive FDA approval for the eye or an inherited condition.

Recent developments in research on retinitis pigmintosa.

Gene therapy delivered by intravitreal injection

University of Pennsylvania investigators studied retinas of patients and canines with retinitis pigmentosa caused by mild mutations in RHO

The emerging therapy is designed to work independent of the mutated gene causing vision loss

The company is also expanding its Phase ½ trial for the emerging treatment

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

Treatment combines gene therapy and a device that generates and delivers retinal code

The oral treatment shows promise for slowing vision loss in people with RP and Usher syndrome, regardless of genetic profile

Emerging treatment designed to preserve vision for people with RP and related conditions

Vision improvements observed with medium and high doses

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.

The company is planning a Phase 3, pivotal trial for end of 2020

The trial becomes ProQR’s third human study for inherited retinal disease therapies

Phase 1/2a human study will evaluate neural progenitors for preserving vision

Dual-vector delivery system designed to deliver the large ABCA4 gene

The Foundation funded earlier lab studies that made the clinical trial possible.

AGTC used Foundation’s My Retina Tracker registry to recruit patients for trials

The treatment focuses on the P23H mutation in the RHO gene, which is the most prevalent variant causing adRP in the US and affects approximately 2,500 people.

A clinical trial for the treatment, designed to preserve cone photoreceptors, is planned in the US and Europe in 2020.

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.

Francois Paquet-Durand, PhD, chief scientific officer at the company Mireca, discusses an emerging drug for retinitis pigmentosa, and other inherited retinal diseases.

ProQR, a developer of RNA therapies in the Netherlands, announced that the first clinical-trial participant has received its emerging treatment, which targets retinitis pigmentosa and Usher syndrome caused by mutations in exon 13 of the USH2A gene.

ReNeuron, a cellular therapy developer in the UK, has reported vision improvements in the treated eyes of the first three retinitis pigmentosa (RP) patients in the Phase II part of the Phase I/II clinical trial for its proprietary human retinal progenitor cells (hRPC). The Phase I portion of the trial, completed last year, primarily assessed safety in subjects with minimal remaining vision.

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.

ProQR, a biotech in the Netherlands developing therapies for rare diseases, has received authorization from the US Food and Drug Administration to launch a Phase I/II clinical trial for QR-421a, its treatment targeting mutations in exon 13 of the USH2A gene.

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.

The company is taking on a multi-track strategy that includes retinal gene-therapy development, including delivery of over-sized genes and design of a two-step process of gene knockdown and replacement for autosomal dominant conditions.

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.

Horama’s gene therapies are injections of healthy copies of a gene underneath the retina to compensate for the defective gene.

Dr. Henry Klassen, jCyte co-founder and investigator at UC Irvine, provides an update on the clinical trials for an RP therapy derived from stem cells.

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.

An FFB-funded study at Massachusetts Eye andEar Infirmary (MEEI) suggests that vitamin A palmitate supplementation may slow the decline of cone function by nearly 50 percent in children with retinitis pigmentosa (RP).

The Foundation Fighting Blindness Clinical Research Institute (FFB-CRI) has entered into a partnership with ProQR to develop a retinal therapy for people with Usher syndrome type 2A (USH2A) caused by mutations in exon 13 of the USH2A gene.

Taking place at five locations in the United States, the clinical trial will enroll approximately 15 males with X-linked retinitis pigmentosa caused by mutations in the gene RPGR and will primarily evaluate safety.

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.

Some participants reported increased light sensitivity, improved color vision, better mobility, and improved reading ability.

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 MeiraGTx gene therapy involves injection of healthy copies of RPGR underneath the retina. The RPGR copies are contained in a human-engineered virus — known as an adeno-associated virus or AAV — designed to readily penetrate retinal cells to deliver the therapeutic genetic cargo.

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.

SparingVision received a €300,000 award known as the Honor Prize from the French Ministry of Research. The award is given to new, innovative companies in France competing in a national contest.

The discovery can help genetic experts diagnose more patients with adRP, and it gives researchers a target for developing potential therapies.

While a therapy for adRP will not emerge from the clinical trial, study investigators advanced development of a new outcome measure known as EZ Area to quickly and accurately evaluate potential therapies for RP in human studies.

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.

Based on lab studies, researchers believe the treatment can preserve and potentially rescue the patient’s existing photoreceptors, thereby saving and possibly restoring vision.

The study — known as RUSH2A (“R” stands for “rate of progression”) — is beginning in spring 2017 and will take place at about 20 clinical sites around the world. RUSH2A investigators will use a variety of technologies to monitor changes in vision and retinal structure to document and analyze disease progression.

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

The Nightstar gene therapy involves injection of healthy copies of RPGR underneath the retina.

“…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

The Foundation Fighting Blindness Clinical Research Institute (FFB-CRI) has announced an investment of up to $7.5 million to advance the potential therapy into and through a Phase II clinical trial.

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.

By changing the identity of cells in the retina–namely rods–researchers may someday be able to slow or halt vision loss for those with retinitis pigmentosa (RP) and other related conditions.

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).

The trial is one of the first-ever for a stem-cell-derived therapy for RP.

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.

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.

After years of refinement and testing in animal models, the emerging therapy is about a year and a half from moving into a clinical trial.

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 story of vision loss in a Peruvian village

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.

Dr. Henry Klassen’s progenitor-based therapy has the potential to rescue a variety of retinal cells — including rods, cones, retinal pigment epithelium and ganglion cells — and, therefore, may save vision in people with a wide range of conditions.

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

Acupuncture definitely has potential benefits, and the breadth of those is being aggressively explored.

While it isn’t a substitute for a diagnosis through genetic testing, the urine test can verify that a given DHDDS mutation is, in fact, causing RP.

Known as EZ Width, it holds potential for reducing the time, cost and number of patients needed to determine if a therapy is working in a clinical trial.

The Foundation Fighting Blindness is, of course, all about finding treatments and cures for retinal degenerative diseases. However, we are well aware that many of our constituents and their families are dealing with more than just vision loss. That’s because genetic defects causing retinal conditions can sometimes affect other parts of the body. The result is conditions often referred to as syndromes.

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.

A Foundation-funded research group is developing a gene therapy that revives degenerating cones, enabling them to regain their ability to respond to light and provide vision.

Allen has always wanted to be known as an artist, first and foremost. His photography hints at the ever-changing nature of people’s lives and their environment, much like his own progression with retinitis pigmentosa (RP).

Braydon was diagnosed with an inherited retinal disease at only two years old. Eight years later, after his mom enrolled him in the My Retina Tracker® Program, Braydon learned his disease was LCA.

26-year-old Charlie Kramer is well-known as a professional song leader, songwriter and spiritual leader. But until recently, Charlie didn’t want to openly share his journey with vision loss.

Rachel Luehrs describes her journey of acceptance.

The Bergstein family has always been passionate about helping the Foundation Fighting Blindness.

In honor of National Guide Dog Month this September, Davida is sharing her experience with the Guide Dog Foundation for the Blind and how she found a perfect match in her new guide dog, Chubb.

Hannah has always had dreams of starting her own fashion line. And despite being diagnosed with retinitis pigmentosa at the age of 15, she recently began an intimate company, Watson & Wilma.

Susan, who has retinitis pigmentosa, went through many tests in search of learning more about her eye disease. Once she enrolled in the My Retina Tracker® (MRT) testing program, Susan was provided with comprehensive results and a clear diagnosis, giving her clarity and hope.

Jack Hogan was diagnosed with retinitis pigmentosa at only two-and-a-half years old. But with the help of connections made with the Foundation, Jack became the first-ever recipient of the FDA-approved gene therapy known as LUXTURNA.

Gertrude Weiss was one of the early Foundation Fighting Blindness investors and advocates. Diagnosed with retinitis pigmentosa, Gertrude continues to live her life to the fullest. As a longtime friend, the Foundation honored Gertrude on her 100th birthday recently.

Jenny Schisler has retinitis pigmentosa. Jenny wants to spread awareness of what having a visual impairment really means to her and others affected by retinal degenerative diseases.

Paul Castle was diagnosed with X-linked retinitis pigmentosa at the age of 16, but continued to follow his passion for art. Now Paul is a full-time artist and donates 5 percent of his art sales to the Foundation.

A story about living with retinitis pigmentosa.

“I try not to get my hopes up too much, but I never lose hope; I’m determined. I just want to see my son’s face, see him get married, & see my grandchildren. I encourage everyone with a retinal disease to get a genetic test & to never ever give up hope.“

An interview with Louis Posen, record label founder and retinitis pigmentosa patient.

Nicole Simpson, author of “Now I See You,” shares her experience with retinitis pigmentosa.

His name is Battle. He’s an Arabian, stands more than 15 hands (or 5 feet) tall and weighs 1,000 pounds. He’s been with Alice Bartlett since his birth 26 years ago, and she’s been riding him since he was 2.

Alice, by the way, is legally blind.

By Rich Shea

Author Shawn Maloney describes his journey with RP.

The parents of young children affected by retinal diseases walk a fine line – between making the best of a trying situation and preparing for the worst.

When it comes to describing Eric Fulton, “gregarious” is a more-than-appropriate adjective for the husband and father of two who, fittingly, is also communications manager at the Bethesda-based Clark Construction Group. “It comes naturally to me,” he says of his ability to mix it up with people. “The cause makes it easier. But, otherwise, I’m pretty outgoing; I like to talk to people. It’s what I do.”