A scalable, patient-led model for Ultra-Rare Disease Drug Development
We are developing a novel, curative genetic therapy for SCN8A, a catastrophic neurodevelopmental disease. By leveraging recent breakthroughs in programmable gene editing, we aim to move from concept to clinical trial in record time.
This project is not just for one child. It serves as a proof-of-concept for a modular therapeutic platform that can be replicated for future precision genetic medicines, a direction that has recently garnered support from regulatory and industry stakeholders (NEJM, The Atlantic, ARPA-H).
SCN8A is a devastating genetic disorder caused by a mutation in the SCN8A gene. It results in treatment-resistant epilepsy, severe movement disorders, and developmental regression.
High Mortality: Sudden Unexpected Death in Epilepsy (SUDEP) is a constant threat.
No Cure: Current treatments only manage symptoms, often ineffectively.
The Opportunity: Because the genetic root cause is known, SCN8A is an ideal candidate for precision genetic medicine.
We are employing a platform precision medicine approach, utilizing advanced gene-editing technologies, to target the specific pathogenic variant and create a reproducible template for treating genetic diseases.
Gene Editor Development: We have partnered with the Innovative Genomics Institute (IGI), which developed the world’s first personalized CRISPR cure (“Baby KJ”), to design and screen therapeutic candidates.
Scalability: We are collaborating with Dr. Fyodor Urnov (IGI) & the Medical Research Council to “platformize” our workflow, ensuring that learnings from this N-of-1 case make the next cure safer, cheaper, and faster.
Validation & De-risking: We have partnered with The Jackson Laboratory to engineer specialized "humanized" mouse models to validate that our therapeutic crosses the blood-brain barrier and engages the specific human target. We are further de-risking safety through predictive AI modeling to screen for and minimize unintended off-target effects.
Regulatory Pathway: Our roadmap focuses on a streamlined path to a first-in-human (N-of-1) clinical trial, following the precedent set by recent FDA approvals for individualized therapies, that can serve as a blueprint for future trials.
In addition to the partners above, our roadmap has been vetted by leaders in academia and industry, including:
Dr. David Liu (Broad Institute/Harvard): pioneer of base and prime editing; advised on the viable path to the FDA
Terry Pirovolakis (founder of Elpida Therapeutics): successfully brought a gene therapy to clinic in under 3 years); advised on parent-led drug development and regulatory strategy
Ultragenyx Rare Disease Boot Camp: Selected for and completed this competitive program for de-risking drug development with industry experts
FUNDING & MILESTONES
We are operating as a non-profit under our 501(c)(3) fiscal sponsor, the Rare Village Foundation. This allows all contributions to be tax-deductible while we pursue rigorous scientific milestones.
Total Goal: $5.9M to reach clinical trial
Current Status: 20% Raised (donations and in-kind grants)
Immediate Funding Gap: Capital is needed to complete clinical-grade manufacturing, toxicology and safety testing for regulatory approval.
Ways to Support:
Philanthropic Investment: Direct tax-deductible donations online, via DAF, and/or through your corporate matching program (e.g. Benevity, Cybergrants)
Corporate Sponsorship: Opportunities for industry partnership
In-Kind Expertise: Scientific, legal, regulatory, and biotech operational support
gifts@rarebreak.org
Note: If you donate via DAF or Corporate Match, please email a quick note to gifts@rarebreak.org so we can track your gift and thank you immediately!