THE AAV PROJECT
With funds raised from the AHC Foundation, we hope to develop a cure for all of our AHC families suffering from AHC. We believe a path has been identified to a viable permanent treatment: gene therapy.
1. 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.
2. Remarkable Scientists
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.
3. Application 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.
Gene therapy provides a path to a cure for AHC. A similar approach has already been successful in many diseases like Batten’s disease, Friedreich’s Ataxia, Huntington’s disease, Niemann-Pick disease, Parkinson’s disease, Rett Syndrome, Giant Axon Neuropathy, Multiple Sclerosis, Spinal Muscular Atrophy, and multiple retinal disorders. This is not only cutting-edge science, but also a proven, effective, and permanent fix of the genetic code. It will be delivered by a one-time injection into the cerebrospinal fluid and is designed to permanently correct the dysfunction caused by a mutated gene. Unlike drugs, gene therapy targets the source of the problem: DNA. In many diseases it permanently corrects the dysfunction caused by a problematic gene. We call that a cure.
If we can get this project to clinical trials quickly, it may be possible to treat our children before it is too late. As patients get older, the long-term effects of brain atrophy may not be reversible. For all of the children who now suffer with AHC, it is imperative that we move fast, and we need your help.