NPHP1 Family Foundation
Accelerating the development of therapies for NPHP1-associated retinal dystrophy
Cures in Sight.
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.
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.
How Fast
an NPHP1 retinal dystrophy will progress; it’s different from person to person.
When
progression begins for any individual person.
What We Do Know
Family Foundations Make the Difference.
After large non-profits, vocal and active family foundations are the next best drivers of medical research efforts. This is especially true of rare diseases for which there are no traditional foundations. By funding projects independently, family foundations like ours often determine which gene therapies are pursued.
With money comes drug development and drug development means cures.
Every Dollar Counts.
Science is on the brink of a rapid acceleration in the number of available therapies and the pace with which they are developed. Every advancement brings with it efficiencies of both time and money – meaning every dollar goes farther.
Together we will stop the progression of vision loss and allow kids and adults to live normal, independent lives.
Therapeutic Treatments Have Come A Long Way.
Scientific advances are enabling incredible new gene therapies. These therapies can have profound impacts – on the specific gene they are designed to target. This is why a gene therapy that is focused directly on the NPHP1 gene is so important for the children and adults affected by NPHP1 retinal dystrophies.
Specific therapies target specific genes. We’re working on this one.
We have research collaborators and interest from biotech partners ready to develop an NPHP1 gene therapy. We’ve also identified a small population of people from around the world who will be impacted by this treatment. We have so many tailwinds behind us.
We need you to join the cause.
Your donation is 100% tax-deductible.
Why We’re Optimistic
We’re in a great spot.
To make a gene therapy, generally speaking, you need a mouse model, a vector, the gene product itself, and antibody. Guess what: There is already an NPHP1 knockout mouse model and available mice with the NPHP1 retinal phenotype. The NPHP1 gene fits on an adeno associated viral (AAV) vectors, which have been established as safe and efficient vectors for retinal gene therapy. And NPHP1 antibody is available today. We just need to put the pieces together.
The regulatory environment is focused on accelerated drug development for rare diseases.
The U.S. Food and Drug Administration has recently become vocal about streamlining and accelerating drug approvals with proven delivery mechanisms. Additionally, the Bespoke Gene Therapy Consortium, an initiative of the FDA and the Foundation for the National Institutes of Health, was created to speed the development and delivery of gene therapies for rare diseases.
Gene therapies for the eyes are the most viable routes to treatment.
The ease of accessibility and ocular immune privilege makes the retina an ideal target for gene therapies. NPHP1 retinal dystrophy in particular is an ideal candidate for gene therapy because it’s small. It’s 3.8-kb complementary DNA can be packaged into AAV vectors. NPHP1 is one of only about 100 genes that fit into these vectors.
We’re already starting to prove the feasibility of NPHP1 retinal gene therapy development.
Cell lines are being established using human cells obtained via skin biopsy, an important first step for gene therapy development in a lab.
Our partners are incredible.
We have research collaborators and advisors at Stanford University, Johns Hopkins University, Oxford University, the University of Iowa, the Retina Foundation and the Institut Imagine in France. These individuals are leaders in the fields and share our optimism about bringing an NPHP1 gene therapy for the eye to patients.
Other Resources
While there is limited research available on NPHP1 retinal dystrophies at the moment, we’re working to change that! A few studies of interest include:
