Research for a Cure

With funds raised from the Hope for Annabel foundation, we hope to develop a cure for Annabel, and for the other children suffering from AHC. We believe we have identified a path to a viable permanent treatment: gene therapy.

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.

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.

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.

Speed Matters

If we can get this project to clinical trials quickly, it may be possible to treat our children, including Annabel, before it is too late. As patients get older, the long-term effects of brain atrophy may not be reversible. For Annabel’s sake, and for the other children who now suffer with AHC, it is imperative that we move fast, and we need your help.

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We Need Your Help

A donation now can change Annabel’s future, before it is too late.

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Hope for Annabel, Inc. is a 501(c)(3) organization. All contributions are tax deductible. Please note that no gifts will be used for Annabel’s care or treatment.