Research for a Cure
With funds raised through Cure AHC, hope to develop a cure for all AHC Champions suffering from AHC. We believe we have identified a path to a viable permanent treatment: gene therapy.
The gene therapy we propose will involve inserting a functional copy of the ATP1A3 gene into a virus (an adeno-associated virus or AAV) that has been stripped of its harmful payload and its ability to reproduce. The virus will then be injected into the cerebrospinal fluid and will carry the functional gene to the cells in the brain that are failing. By delivering additional functional copies of the gene, we should be able to rescue those cells, and treat the disease permanently. Gene therapy has been successful before in AHC in mouse embryos, and we now need to prove that it can rescue symptoms in live mice with AHC.
Leading scientists from several top universities and scientific institutions have agreed to participate in a collaborative international scientific effort to pursue the delivery of gene therapy for AHC. We have gathered and engaged the most experienced scientists in the fields of mouse viral therapy design and production, preclinical mouse research, toxicology studies, human viral therapy design and production, and human clinical trials. All of these scientists have dedicated their lives and careers to finding cures for children with life-threatening disorders. They are true heroes.
Applications for Other Rare Diseases
The implications extend well beyond AHC. Ten different diseases are caused by mutations in the same gene that causes AHC and we might be able to treat all of those diseases with the same approach. This technique could also deliver genes to rescue other channelopathies, epilepsies and neurological disorders, with implications for hundreds of thousands of people living with related genetic diseases.
Duke University School of Medicine/Duke Children’s Hospital
- AHC-OBSERV – This is the International AHC Research Consortium (IAHCRC)