Spastic Ataxia Type 5 (SPAX5) is an extremely rare autosomal recessive mitochondrial disease caused by two pathogenic mutations in both copies of the AFG3L2 gene. A neurodegenerative progressive disorder characterized by early onset spasticity, peripheral neuropathy, ptosis, oculomotor apraxia, dystonia, cerebellar atrophy, and progressive myoclonic epilepsy. (Source: OMIM)
Currently there are no known treatments for treating SPAX5. Help us give hope to children like Milo.
With your donations we are exploring various treatment options to slow disease progression through drug repurposing, while also evaluating collaborative opportunities for more long-term therapeutic advancements through pluripotent stem cells transplants and gene editing therapies.