Founded by a Mother having two children with a rare disease, Speragen is structured around advancing viable treatment options for rare neurological diseases havingsignificant unmet medical needs. The first disease of focus is SSADH Deficiency (SSADHD) has been neurometabolic, disorder featuring intellectual disability, developmental delays, disproportionate language dysfunction, epilepsy, hypotonia, ataxia, sleep disorders, and psychiatric disturbances. A genetic, inborn error of metabolism with an autosomal recessive inheritance pattern, identifed only in 1981, SSADH is the most common genetic disorder for affeon genetic disorder for affecting the metabolism of the neurotransmitter GABA. GABA is the primary inhibitory neurotransmitter in the brain with its principal role being to reduce neuronal excitability throughout the nervous system. GABA is also directly responsible for the regulation of muscle tone. In SSADHD, GABA metabolism is hindered resulting in subsequent elevations of both GABA and its precursor, GHB. SSADHD impacts all aspects of life and carries the serious threat of sudden unexplained death of epilepsy (SUDEP) typically in a patient in their mid-thirties. Quite rarely diagnosed, the judgment is that many affected individuals are currently either undiagnosed or misdiagnosed with Autism Spectrum Disorder or Intellectual Disability. There is no known cure.
