Giant Axonal Neuropathy is an autosomal recessive genetic disorder caused by mutations on both copies of the GAN gene. Severity of disease progression widely varies, as some missense mutation patients have a much slower progression. Patients whose GAN mutations render no level of functional protein typically die in the 3rd decade. Some, but not all genetically diagnosed GAN patients have extremely kinky hair.
Breaking News: First Therapeutic Gene Therapy to Treat an Inherited Neuropathy is Approved for Clinical Trial!
The first disease community to receive a therapeutic gene to the spinal cord for an ultra rare inherited neuropathy is Giant Axonal Neuropathy (GAN). Congratulations to Hannah’s Hope Fund (HHF), a 501(c)3 public charity, which has driven this collaborative research in less than six years. Six million dollars has been raised to date to fund pre-clinical and clinical research on this rare disease.