Press Releases

Apr 29, 2021

Foundation Fighting Blindness and Usher 1F Collaborative to Launch Natural History Study

The project will help identify outcome measures for future clinical trials of potential USH1F therapies.

Media Contacts:
Chris Adams
Vice President, Marketing & Communications
cadams@fightingblindness.org
410-423-0585

Erica Miller
Associate Foundation Director
enmiller@usher1f.org
310-948-6178

COLUMBIA, Maryland – April 29, 2021Foundation Fighting Blindness, the world’s leading organization committed to finding treatments and cures for blinding retinal diseases, is partnering with the Usher 1F Collaborative, a family-founded nonprofit driving research for Usher syndrome type 1F (USH1F), to launch a natural history study, the Rate of Progression in PCDH15-Related Retinal Degeneration in Usher Syndrome 1F (RUSH1F). Additional funding for the project will be provided by the Marjorie C. Adams Trust.

Usher syndrome is a progressive genetic condition affecting the retina and inner ear, leading to combined vision loss and hearing loss in approximately 400,000 people worldwide. USH1F is a subtype of Usher syndrome caused by mutations in the gene PCDH15.

The RUSH1F natural history study will follow 40 individuals with USH1F who are eight years of age or older — assessing changes in their vision and retinal structure — for four years. The primary goals of the study are to identify outcome measures for future clinical trials of emerging therapies. The Jaeb Center for Health Research in Tampa, Florida, will serve as the coordinating center for the study. Dr. Katarina Stingl, University of Tübingen in Germany, will serve as the chair of the international multicenter clinical study group. “Genetic diseases with multiple sensory impairments such as Usher syndrome are the most common cause of combined deafness and blindness in adults. It is very important that in this upcoming trial, we are able to provide clinical knowledge about this very rare disease. Only by means of international cooperation will we be able to progress to future research that can try to save the vision of affected persons with rare diseases,” says Dr. Stingl.

“We are delighted to partner with the Usher 1F Collaborative and the Marjorie C. Adams Trust to launch a natural history study that will ultimately help advance clinical research for emerging therapies,” says Todd Durham, PhD, vice president, clinical and outcomes research at the Foundation Fighting Blindness. “In a short period, the Usher 1F Collaborative has been very successful in moving the field forward through their funding of translational research to develop preclinical models of Usher 1F. It is exciting for us to be a part of a family-driven collaboration to expand disease knowledge and the potential for getting more treatments into the clinic.”

The overall cost of the USH1F natural history study will be more than $2 million, with the Usher 1F Collaborative providing $1 million in support and the Marjorie C. Adams Trust contributing $115,000 in funding. Foundation Fighting Blindness will provide more than $1 million to cover the remaining costs.

“We are thrilled and grateful to Foundation Fighting Blindness for the opportunity to partner with the Usher 1F Collaborative in order to achieve this critical milestone for patients with Usher 1F,” says Melissa Chaikof, president of the Usher 1F Collaborative.

Investigators at ten centers will begin enrolling study participants in May 2021. Information regarding the study can be found at ClinicalTrials.gov (NCT04765345), and the study protocol can be accessed on the Jaeb’s public website (https://public.jaeb.org/ffb). Individuals with USH1F interested in participating in this study are encouraged to contact staff at the Jaeb Center by email at ffb@jaeb.org or by phone at 813-975-8690.

About the Foundation Fighting Blindness
Established in 1971, the Foundation Fighting Blindness is the world’s leading private funding source for retinal degenerative disease research. The Foundation has raised more than $816 million toward its mission of accelerating research for preventing, treating, and curing blindness caused by the entire spectrum of blinding retinal diseases including: retinitis pigmentosa, macular degeneration, and Usher syndrome. Visit FightingBlindness.org for more information.

About the Usher 1F Collaborative
Usher 1F Collaborative is a 501c3 nonprofit foundation whose mission is to fund medical research to identify an effective treatment to save or restore the vision of those with Usher 1F. The organization is a patient-led research network partnering with dedicated scientists and clinicians working together to find a cure. Since its inception in 2013, the Usher 1F Collaborative has funded $5 million in research at eight laboratories with therapeutic programs in gene, drug, and stem cell therapies. Visit usher1f.org for more information.

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