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 and falls within a category of conditions termed “diseases of no commercial interest.” 

For parents, it’s a triple gut punch: Your child is sick. There’s no cure. And there’s no interest in developing one. 

The NPHP1 Family Foundation is dedicated to funding the accelerated development of therapies that will preserve vision for children and adults impacted by NPHP1 retinal dystrophies.

NPHP1 Family Foundation

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