The USFDA has approved ganaxolone to treat cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) in patients aged two years and above. The CDKL5 gene makes proteins that play a pivotal role in the normal functioning and development of the brain. Mutation of this gene leads to a rare disorder called CDKL5 deficiency disorder (CDD), which involves developmental epileptic encephalopathy of the brain. The patients’ response to the currently available treatments is poor.
Symptoms of CDD The major symptoms of CDD are infantile-onset epilepsy, hypotonia (poor muscle tone), cortical visual and motor impairment, severe delay in cognitive development with little or no speech production, sleep and digestive difficulties, and behavioral abnormalities. CDD is the most common genetic form of epilepsy, with an incidence rate of 1 in 40,000-60,000 live births . Assessment of ganaxolone A…
