Study of Facial Features in Males Aged 2 to 40 Years With Creatine Transporter Deficiency

What this Trial Is About

Creatine transporter deficiency CTD is a genetic disorder affecting mainly males, causing intellectual disability ranging from mild to severe, seizures, behavioral challenges, slow growth, and fatigue. This study aims to identify shared facial features in males aged 2 to 40 years with CTD to help improve diagnosis, as some symptoms may be confused with autism or other disorders. An expert in dysmorphology will examine photos and participant data collected during a previous study to find common traits. Participants include males with CTD who have genomic confirmation of a mutation in the SLC6A8 gene. The study involves reviewing photographs taken previously or newly provided by parents either through a secure portal or during clinic visits. The expert will analyze these photos for dysmorphic features, which may also be published in clinical journals with separate consent. This observational study does not involve treatments but focuses on characterizing physical traits associated with CTD. During the study, participant data such as diagnostic images and lab results may be shared with the expert. The main outcome measure is the identification and description of dysmorphic features over a three-year period. Participants and their families will provide consent, and the study monitors adherence to procedures while ensuring safety. The total participation length and detailed follow-ups are designed to support this natural history evaluation of CTD.

Characterization of Dysmorphology in Subjects With Creatine Transporter Deficiency