Phase 2 Clinical Trial for SSADH Deficiency To Begin скачать в хорошем качестве

Phase 2 Clinical Trial for SSADH Deficiency To Begin

In this exclusive interview with Rare Disease Report, Jess Le Vine, father of two daughters with Succinic semialdehyde dehydrogenase (SSADH) deficiency talks about the clinical trial they are about to begin at the NIH. SSADH deficiency is a very rare metabolic disorder in which persons lack the enzyme involved in the degradation of the neurotransmitter GABA which in turn leads to an accumulation of 4-hydroxybutyric acid (or gammahydroxybutyric acid; GHB). In people with SSADH deficiency, the abnormal GABA and GHB levels is believe to be responsible for the plethora of symptoms these patients can develop, including Common manifestations • Delayed gross motor development • Delayed mental development • Delayed fine motor skill development • Delayed speech and language development • Hypotonia Frequent manifestations • Seizures • Hyporeflexia • Ataxia • Behavioral problems • Hyperkinesis The clinical trial that is about to begin is a phase 2 trial examining the safety, tolerability and efficacy of the GABA-B receptor antagonist SGS-742 in 22 persons with SSADH deficiency. For more information about SSADH deficiency, visit www.ssadh.net