Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder.
Itay Tokatly LatzerJean-Baptiste RoulletWardiya Afshar SaberHenry Hing Cheong LeeMariarita BertoldiGabrielle E McGintyMelissa L DiBaccoErland ArningMelissa TsuboyamaAlexander RotenbergThomas OpladenKathrin JeltschÀngels García-CazorlaNatalia Juliá-PalaciosK Michael GibsonMustafa SahinPhillip L PearlPublished in: Journal of neurodevelopmental disorders (2024)
Findings from the SSADHD Natural History Study converge with iPSC and animal model work focused on a common disorder within our IDDRC, deepening our knowledge of the pathophysiology and longitudinal clinical course of a complex neurodevelopmental disorder. This further enables the identification of biomarkers and changes throughout development that will be essential for upcoming targeted trials of enzyme replacement and gene therapy.