NPHP1 Family Foundation
A resource for families of children affected by NPHP1 gene mutations and their associated ciliopathies.
Healthy Kidneys. Healthy Eyes. Changing the Future.
NPHP1 gene mutations and deletions are the most frequent cause of nephronophthisis, or NPH. NPH is the leading cause of pediatric hereditary, end-stage kidney disease, which requires a life-saving kidney transplant, dialysis, or both. Rarely, these mutations also manifest in other disease types, including retinal dystrophies, which are blinding diseases of the eye.
The NPHP1 Family Foundation is dedicated to funding research that leads to therapeutic treatments that will preserve and even restore vision for children and adults impacted by NPHP1 retinal dystrophies.
90%
of all NPH cases are caused by mutations to the NPHP1 gene.
~10%
of all NPH cases are also accompanied by other diseases that affect more than just the kidneys.
0
treatments exist for NPHP1-associated retinal dystrophies, which are blinding diseases 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 what researchers focus on.
With money comes research and with research comes cures.
Raising Just $100,000 Can Help.
Compared to the millions of dollars required for large-scale clinical trials, research into gene-specific therapies is often funded with $100,000 or less. Science is on the brink of a rapid acceleration in the number of available therapies and the pace with which they are developed.
Your donation will help fund the NPHP1 therapy that will stop vision loss and even restore it in some cases.
Therapeutic Treatments Have Come A Long Way
Scientific advancements are enabling incredible new treatments for rare diseases. These therapies can have profound impacts – on the specific gene they are designed to target. This is why a therapeutic treatment that is focused directly on the NPHP1 gene is so important for the children and adults affected by NPH and NPHP1 retinal dystrophies.
Specific therapies target specific genes. We’re working on this one.
We have identified cutting-edge research teams working to advance compound therapies for NPHP1 retinal dystrophies. In parallel, we are also working to develop an NPHP1-specific gene therapy, building on existing mouse model research. Coming to the table with “money in the bank” makes our case even stronger. Will you help?
What It Means
Your 100% tax-deductible donations will help:
PREVENT
blindness in individuals with NPHP1 retinal dystrophies, including children.
RESTORE
vision for those who’ve already started to lose it.
ESTABLISH
the playbook for NPHP1 therapies that can address more common impacts of NPH.
KEEP
thousands of NPHP1 patients from reaching end-stage kidney disease.
ALLOW
NPHP1 patients to avoid dialysis, transplants, and a lifetime of immunosuppressants.
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:
