Sofia Sees Hope Supports Research into Inherited Retinal Diseases Treatment

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Sofia Sees Hope donated more than $100,000 at the end of 2019 to support research into treatments for inherited retinal diseases (IRDs), including Leber congenital amaurosis (LCA), and to provide free access to genetic testing for those with IRDs.

Sofia Sees Hope (SSH) is a global not-for-profit dedicated to finding treatments and cures for blindness caused by LCA and other rare inherited retinal diseases.

Since its founding in 2014, Sofia Sees Hope has directed $255,000 to research and given $125,000 to provide families free access to genetic testing. This is in addition to providing outreach support, education and advocacy to the IRD and LCA patient communities through programming and a biennial family conference.

“We are pleased to once again be able to support these researchers and their work to find treatments for LCA,” said SSH co-founder Laura Manfre. “With nearly 30 different genetic variations causing LCA, it is equally important to us to provide access to genetic testing for families who are in the early phases of their diagnostic journey. Having spent seven years looking for a genetic diagnosis for our daughter Sofia, we know how expensive and overwhelming that journey can be. Anything we can do to alleviate road blocks for people in the IRD community is important to us.” 

The 2019 donation to Foundation Fighting Blindness includes:

Sofia Sees Hope has supported Drs. Saha and Collin in the past with research funding. Dr. Collin’s work that was funded in part by SSH is now with the Dutch biotech, ProQR, which is developing a novel drop, sepofarsen (QR-110), for patients with LCA10 due to the p.Cys998X mutation, also known as c.2991+1655A>G mutation, in the CEP290 gene. Top-line results from a recently completed Phase I/2 clinical trial in children and adults suggest that the majority of patients treated with sepofarsen experienced a substantive overall improvement in vision at 12 months of treatment. 

Additionally, Sofia Sees Hope donated another $23,200 to My Retina Tracker program to provide free access to genetic testing. The My Retina Tracker Registry is a research database of people and families affected by rare inherited retinal degenerative diseases (IRD). It is designed to share de-identified information within the IRD research and clinical communities about people with an inherited retinal disease to help accelerate the discovery of treatments and cures. SSH made an initial $15,000 donation to the program in December, and was able to add $8,200 in Q1 of 2020 from its 2019 year-end appeal, which pledged every dollar raised to benefit free genetic testing.

“The support that Sofia Sees Hope has given helps ensure that the most promising research will advance to clinical trials and that My Retina Tracker Registry will continue to register thousands of affected individuals who may be helped to regain their vision or slow its loss by enrolling,” said Benjamin Yerxa, PhD, chief executive officer at Foundation Fighting Blindness. 

Sofia Sees Hope is able to support research and provide access to genetic testing because of its successful fundraising, primarily through its signature gala event, Dinner in the Dark. Matching corporate gifts and other event fundraising proceeds make these donations as well as a national conference for LCA families, and other outreach events throughout the calendar year possible.

About Sofia Sees Hope

Sofia Sees Hope was founded in 2014 by Laura Manfre and Charles Priebe, whose daughter Sofia has Leber congenital amaurosis (LCA). This rare genetic retinal condition is characterized by severe vision loss at birth and leads to total blindness.

The mission of Sofia Sees Hope is to transform the lives of those affected by blindness caused by rare inherited eye disease. The nonprofit organization generates awareness, raises funds for research, and provides outreach, support and education to those affected by LCA and other rare retinal diseases.

About 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 $750 million toward its mission of preventing, treating, and curing blindness caused by the entire spectrum of retinal degenerative diseases including: retinitis pigmentosa, age-related macular degeneration, Usher syndrome, and Stargardt disease. Visit www.FightingBlindness.org for more information.