It feels like cruel joke.

Chip was born totally blind: detached retina, layers of scar tissue within his eyeballs, hemorrhage, and even some cysts growing in there. Over the next few days, we would learn that he has Norrie Disease. Not only is he totally blind, he will eventually lose his hearing, that one precious sense that connects him to the world. The consequences would be devastating. Chip uses his hearing to navigate his surroundings, to listen to music, to play his favorite piano, to learn and communicate. Losing it would put him in a dark void, at sea in a dense fog. It simply cannot be!

It has been 5 years since we started the Foundation to Treat Norrie Disease (www.treatnorriedisease.org) to inspire a glimmer of hope & develop treatments for children struggling with total blindness and the prospect of inevitably losing their hearing as well. What a whirlwind it’s been! Against all odds we are on track to push a gene therapy (AAV1-Ndp) through to clinical trials which would replace the defective gene locally in the inner ear, allowing Norrie children to retain their natural hearing. Not only would their hearing be saved but these children will be spared the profound distress associated with a blind person losing their main sense of connection to the world.

ALERT: The gene therapy is ready for manufacturing and we are raising funds to make enough to run clinical trials.

The Foundation has put in a lot of work over the past 5 years to get us here. Some highlights include:

• Providing $100k in grants to Dr. Albert Edge at Harvard Mass Eye and Ear to conduct Proof of Concept studies in gene therapy to treat hearing loss

• Providing $25k in grants to Dr. Calvin Kuo at Stanford University to test systemic and in-ear delivery of a powerful norrin mimetic directly into the body

• Identifying Dr. Wade Chien from National Institute of Health as our lead investigator for Phase 1/2 clinical trial to be held at NIH

• Working with Dr. Stephane Angers out of Toronto University to leverage an existing Merck clinical trial compound MK-3000 to test on Norrie Disease

• Collaborating closely with Dr. Jane Sowden out of UK to share data and find best path to clinical trial for the gene therapy on hearing loss

The weekly meetings, the long nights, & the tireless efforts of our community to band together to try to find a solution to this devastating disease have all been worth it. Tangible outcomes to our research efforts include:

• Dr. Albert Edge’s Proof of Concept study of AAV1-Ndp gene therapy shows significant efficacy results in Norrie mice model

• Early administration of AAV1-Ndp is able to prevent ND-associated progressive hearing loss

• Statistically significant preservation of ABR relative to the untreated Ndp KO mouse (Mann-Whitney U Test, * P <, 0.05, ** P < 0.01)

• This effectively means that when given a one-time administration of this gene therapy Norrie kids will NOT go deaf and will maintain their natural hearing throughout their lives

With this efficacy data, we have an agreement with Regeneron Pharmaceuticals to allow us to cross-reference their Investigational New Drug (IND) application to use the same biodistribution data so that we can commence a clinical trial immediately after performing a toxicology study.

In summary, to begin a clinical trial all we need to do is: 1) manufacture the AAV1-Ndp gene therapy at scale 2) conduct the toxicology study.

Since we’re so close to accomplishing our goal of sending Norrie kids to clinical trial, we’re starting another fundraising drive (see our first here ). This fundraiser is specifically for us to accomplish Goal #1: manufacture the AAV1-Ndp gene therapy at scale.

We have identified PackGene Biotech as our CDMO to produce the AAV1-Ndp gene therapy. We have a proposal from them to make enough gene therapy for us to start the toxicology study and go to clinical trials. For transparency, this proposal is attached here—we want everyone generous enough to donate to the cause to know exactly there their money is going: towards operationalizing a cure for the inevitable deafness suffered by blind children with Norrie Disease.

Our fundraising target is $500k and all gifts received by the end of 2025 will be matched dollar-for-dollar by the Caligaris/Jiang family. Thank you again for all of your support past, present and future--we wouldn’t have been able to get this far without the generous contributions of donors like yourselves and we couldn’t be more excited that a treatment is now within our reach. Chip and the entire Norrie community really appreciate it—together we can!

The Foundation to Treat Norrie Disease

Save blind children from Hearing Loss: we need your help!

Help us manufacture gene therapy to treat hearing loss

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