Amaurosis congénita de Leber (LCA)

Uni-Rare Study will improve clinical understanding of more IRDs and boost development of potential therapies.

Biopharma clinical development veteran to propel Opus’ AAV-based gene therapies for inherited retinal diseases toward patients.

Initial programs will focus on treatments for rare pediatric blinding conditions. Company formed to advance the work of scientific cofounders Dr. Jean Bennett, Junwei Sun and Dr. Eric Pierce.

Round was led by Sofinnova Investments with participation from Abingworth, Lightstone Ventures and all existing investors.

Company expands board of directors and plans to build out team.

This exclusive conversation and acoustic performance by Sam and Casey Harris of X Ambassadors on August 20, will raise awareness and funds to find treatments and cures for blinding diseases.

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.

Company formed with $8.15 million Series 1; led by founding investors Hatteras Venture Partners and the Foundation Fighting Blindness

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

Sofia Priebe, 17, is legally blind. Her parents have started a nonprofit, Sofia Sees Hope, to raise funds for research into and awareness of the rare genetic disease Leber congenital amaurosis, which causes her blindness.

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.

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 Leber congenital amaurosis

Opus was established by the RD Fund, the Foundation’s venture philanthropy arm

The five-year grant will advance the emerging treatments toward clinical trials

During his Proctor Award Lecture, Dr. Pierce reviewed encouraging clinical trial results for Editas’ CRISPR/Cas9 treatment for people with LCA10

The LCA5 gene therapy will be the first emerging Opus treatment to move into a human study

The company is seeking a partner to move the LCA10 program forward

The company is planning to move the emerging treatment into a pivotal trial

The company is halting its clinical programs for LCA10 and USH2A as it seeks a new partner

However, the Phase 2/3 Illuminate trial for sepofarsen didn’t meet its endpoints at 12 months

The emerging treatment had shown encouraging results in a Phase ½ clinical trial

The emerging treatment targets a specific mutation (c.2991+1655A>G in Intron 26) of the gene CEP290 which causes Leber congenital amaurosis 10 (LCA 10)

Development of the emerging gene therapy is being funded by the Foundation’s RD Fund

Company also announced progress in enrollment for Phase 1 / 2 clinical trials for emerging USH2A and RHO RNA therapies.

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

A Lifelong Science Nerd is Winning the Fight Against Blindness

First time emerging CRISPR therapy administered inside the human body

15-year-old Yannick Duwe transfixed the audience, describing how the treatment enabled him to use a computer instead of Braille, and work much easier and faster at school.

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.

Proof-of-concept for RDH12 gene therapy demonstrated in mouse model

The trial will be the first for a CRISPR/Cas9 therapy administered inside the human body.

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.

The treatment, formerly known as QR-110, is designed for people with the retinal disease Leber congenital amaurosis 10

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.

Editas Medicine, a company developing gene-editing treatments, has received authorization from the US Food and Drug Administration to launch a clinical trial for its emerging CRISPR/Cas9 therapy for people with a mutation in the gene CEP290, which causes Leber congenital amaurosis 10 (LCA10). LCA causes severe vision loss or blindness at birth.

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 reported that 60 percent of subjects in the trial demonstrated improvements in visual acuity and their ability to navigate a mobility course. The treatment was also safe for patients.

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.

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.

Shannon Boye, PhD, University of Florida, talks about the advancement of her of gene therapy for Leber congenital amaurosis toward a clinical trial.

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.

The natural history study will be used to characterize the range of visual function in patients, to evaluate which visual tests may be the most useful for patients with this condition, and to determine the rate of change in visual function over a one-year period.

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.

The company plans to report interim, six-month study results in 2018 and 12-month results in 2019.

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.

ProQR, a biotechnology company in the Netherlands, has received authorization from the U.S. Food and Drug Administration to start a Phase I/II clinical trial for its therapy known as QR-110

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.

The investigators found that in canines, the retinal degeneration is remarkably similar to that in humans with NPHP5 mutations.

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.

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.

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).

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

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.

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.

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.

Born with LCA, Anthony began wrestling in the seventh grade, continued through high school, and eventually became the subject of a documentary about his life as a blind wrestler. He then received a life-changing call from the United States Olympics Committee, asking him to compete on the Paralympic Judo Team.

At the age of five, Livie was diagnosed with LCA but her doctor immediately told her parents that clinical trials were underway and that Livie could soon be eligible for treatment. Not long after, they got a phone call from Spark Therapeutics and Livie received LUXTURNA®. Now eight, Livie’s confidence is at an all-time high with her “new eyes.”

At seven years old, Hannah had never seen a lightning bug in the summer or a star in the sky. But after her treatment with LUXTURNA, Hannah can now play outside at night with her brothers and has a new bright future in store.

ProQR Therapeutics N.V. (Nasdaq:PRQR), a company dedicated to changing lives through the creation of transformative RNA therapies for severe genetic rare diseases, today announced virtual presentations at the Ophthalmology Futures Retina Forum, European Society of Retina Specialists (Euretina) congress and the Annual Meeting of the American Academy of Optometry (AAOpt).

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.

Ashlyn’s vision was restored following her treatment with the LUXTURNA gene therapy.

13 year old Kailey Reichardt’s personal essay about her little sister Ashlyn, who was diagnosed with Leber congenital amarosis (LCA) at a young age. Kailey is a Beacon for other siblings impacted and going through similar situations.

Kai Wang was 18 months old when he was diagnosed with the condition. His parents never imagined the extraordinary journey they would take with their son when they learned he had a condition that would render him blind.

Christian Guardino has been singing for as long as he can remember; it’s the seeing that is something new.

Allison Corona is one of 40 people with Leber congenital amaurosis who’ve benefitted from a gene therapy clinical trial.

How gene therapy restored some of a boy’s sight.