NPHP1 Gene Therapy for Vision Loss
Together with the NPHP1 Family Foundation, Odylia is developing a gene replacement therapy for vision loss caused by mutations to or deletions of the NPHP1 gene.
Today, Odylia and the NPHP1 Family Foundation have partnered with the lab of Dr. Friedhelm Hildrebrandt at Boston Children’s Hospital to test an AAV-based therapy on two different mouse models. This work follows a successful gene replacement therapy proof of concept conducted in the lab of Dr. Lingzhong Sun, at Southern Medical University in Guangzhou China. Dr. Hildebrandt’s team is currently conducting the natural history, pharmacology and efficacy studies, with a goal of having initial data prepared by the end of 2025.
Following preclinical efficacy and safety studies and manufacturing, Odylia is preparing for IND submission in 2027. To move this program forward, Odylia is seeking partnerships or philanthropic funding, including exploring hybrid models of funding and private/commercial investment. We are committed to moving this gene therapy forward to ultimately prevent vision loss and are actively seeking partners and donors at this time. For more information on how you can support this program or if you or your company may be interested in becoming a sponsor please send an email to hgreene@odylia.org
NPHP1 Disease Overview
NPHP1 gene mutations and deletions are the most frequent cause of nephronophthisis, which leads to unavoidable kidney failure, often by the early teens. In the U.S., nephronophthisis occurs in 1 in 922,000 live births.
Of that number, 6-10% of patients will also develop retinal dystrophy, which is a blinding disease of the eye. Having both is extremely rare.
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- 90% of all pediatric nephronophthisis cases are caused by mutations to the NPHP1 gene.
- 6-10% of all nephronophthisis cases are also accompanied by retinal dystrophy.
- 0 treatments exist for NPHP1-associated retinal dystrophy, which is a blinding disease of the eye.
We don’t know why some people with NPHP1 mutations also have retinal dystrophies; or how fast an NPHP1 retinal dystrophy will progress because it’s different from person to person; or when progression begins for any individual person.
But we do know that we have lots of reasons to be optimistic about the potential for this ground-breaking therapy to be successful.
Learn more at www.nphp1.org.
