Enfermedad de Stargardt

January 20, 2023. Paul Bernstein, MD, PhD, from the Moran Eye Center, University of Utah, and a member of the Foundation’s Scientific Advisory Board talks to host Ben Shaberman about his clinical practice for retinal disease patients

December 16, 2022. Rando Allikmets, PhD, talks to host Ben Shaberman.

The Foundation Fighting Blindness Retinal Degeneration Fund is an investor in the company

The event will review best practices for care and management of patients with inherited retinal diseases such as retinitis pigmentosa, Usher syndrome, and Stargardt disease.

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 transcript 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.

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.

The newly funded research efforts include several therapies that have strong potential to treat a wide range of inherited retinal diseases.

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 primary goal of the landmark study, funded by the Foundation, is to provide companies and researchers with disease-progression data and potential clinical trial endpoints to drive therapy development

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.

A research team funded by the Foundation Fighting Blindness used an innovative repair technique to correct the disease-causing genetic defect in stem cells derived from a person’s skin — stem cells that hold the potential to treat their retinal degenerative condition.

Recent developments in research on Stargardt disease

The company’s drug is designed to reduce accumulation of toxins that cause vision loss.

The emerging therapy is designed to restore vision for people with advanced retinal degenerative diseases

The company is also conducting a Phase 3 clinical trial of the emerging therapy for geographic atrophy.

The company is currently developing programs for Stargardt disease (ABCA4), Usher syndrome, RP25 (EYS), and RP1.

Projects target a variety of conditions including: age-related macular degeneration, Stargardt disease, retinitis pigmentosa, and Usher syndrome type 3A

Researchers believe the VLC-PUFAs may benefit people with autosomal dominant Stargardt disease, AMD, and possibly other retinal degenerations

With a founding investment from Hatteras Venture Partners, Atsena has raised a total of $8.15 million for its launch.

Microperimetry, which measures retinal sensitivity in the macular region, shows promise as outcome measure

A Lifelong Science Nerd is Winning the Fight Against Blindness

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.

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

Zimura inhibits a complement protein known as C5, a component of the immune system that, when overactive, can cause retinal degeneration.

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.

The Seattle biotech Acucela is now enrolling participants in its Phase 3 clinical trial for emixustat hydrochloride, an emerging oral drug for slowing vision loss in people with Stargardt disease, an inherited form of a macular degeneration.

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.

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.

Ophthotech, a biopharmaceutical company developing therapies for eye diseases, has enrolled the first patient in its Phase 2b clinical trial of Zimura® for people with Stargardt disease caused by mutations in the gene ABCA4.

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.”

Much of the information and data shared during the meeting came out of ProgSTAR, the FFB-CRI-funded natural history study of 365 Stargardt disease patients.

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).

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.

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.

The story of Two Blind Brothers, a luxury clothing line that donates its proceeds to retinal research.

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

In August 2015, the biotech company Alkeus launched a multi-center TEASE Phase II clinical trial for the drug ALK-001.

When the study and the reports are completed, the ProgSTAR database will be made available to researchers and companies developing therapies.

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.

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.

These healthy fats have exciting potential for treating a wide range of retinal degenerations and other health conditions.

The information gleaned from ProgSTAR will be of enormous value in designing future clinical trials for Stargardt disease treatments.

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.

The study is designed to evaluate the pharmacodynamics, safety and tolerability of emixustat in subjects with macular atrophy secondary to Stargardt disease.

Chloé Duplessis is a legally blind digital collage artist in Denver, Colorado. At 39 years old, Chloé was diagnosed with Stargardt disease, which was a pivotal point in her creative journey to becoming a full-time artist and owner of Duplessis Art.

Fashion and Lifestyle Blogger Lindi Goff is sharing her authentic self by being vulnerable about her journey with Stargardt disease.

This year, the Foundation created a new fundraising initiative called Eye on the Prize, influenced by March Madness. The winner of the inaugural Eye on the Prize competition was Nicholls State University, raising $2,428. This winning team was led by Josh Cogswell, an assistant professor of management at Nicholls State University, who has his own personal connection to the Foundation’s mission.

Kenyetta has worked to help others through the nonprofit sector for over 25 years, despite being diagnosed with Stargardt disease at the age of 31. Kenyetta is now the chief operating officer of REACH Riverside Development Corporation and has been recognized for her career achievements by many.

Adopted into a musical family, Miles Hoyt picked up a guitar at just four years old, and he hasn’t stopped playing since. Now Miles, who has Stargardt disease, and his parents are using music to bring their community together to raise funds for blinding diseases with their DIY fundraiser, Smiles for Miles.

Beverley is a go-getter who does not let her Stargardt disease get in the way of living her life to the fullest. When Beverley isn’t hard at work as an entrepreneur, she enjoys spending time with friends, her dog, Loki, and is also an active leader of the Foundation’s Boston Chapter.

YouTuber Sam Seavey was diagnosed with Stargardt disease when he was just 11 years old. Sam didn’t fully accept his visual impairments until his early 30s. Now he’s helping others through “The Blind Life,” which is currently the most extensive resource for assistive technology on the internet.

Thirty-one-year-old Wren Blae Zimmerman always loved horses. But it wasn’t until a few years ago that Wren finally learned to ride. Now her life revolves around this equestrian dream, and she’s given herself the title of the “Blind Show Jumper.”

Paralympian Elizabeth Baker says that Stargardt disease has made her a tougher person.

Dr. Marciello doesn’t let a Stargardt disease diagnosis get in the way of his twin passions: medicine and baseball.

Elijah has always had an artist mind, and he hasn’t let his diagnosis with Stargardt disease hold him back from his passion for creating art.

Emmy Award-Winning Writer and Performer Ellen Gould Weaves her Personal Experience with Stargardts Into Her New Musical, “Seeing Stars”

A story about living with retinitis pigmentosa.

When you’re the catcher, the ball always comes to you. Heather Presnar wouldn’t have had it any other way.

Brooke James has had more than a glimpse of what it means to be blind in certain parts of the world. And she can assure you, it’s scary.