Creatine transporter deficiency
MONDO:0010305X-linked creatine transporter deficiency (CRTR-D) is a creatine deficiency syndrome characterized clinically by global developmental delay/ intellectual disability (DD/ID) with prominent speech/language delay, autistic behavior and seizures.
Also known as: SLC6A8 deficiency, cerebral creatine deficiency syndrome 1, cerebral creatine deficiency syndrome 1, X-linked recessive, cerebral creatine deficiency syndrome type 1, creatine transporter deficiency, CCDS1, X-linked creatine deficiency, X-linked creatine deficiency syndrome
6 clinical trials for this condition and its sub-types.
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Newborn screening study aims to catch rare diseases at birth
Diagnosis OngoingThis study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…
Sponsor: RTI International • Aim: Diagnosis
Last updated Jul 03, 2026 00:00 UTC
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Can a video-based therapy tame tough behaviors in kids with rare genetic disorders?
Symptom relief OngoingThis study tests a virtual behavioral therapy (Functional Behavioral Training) for children aged 2-12 with genetic syndromes like Fragile X, Angelman, or Rett syndrome who have challenging behaviors. The therapy teaches parents how to identify what triggers problem behaviors and …
Phase: NA • Sponsor: Rush University Medical Center • Aim: Symptom relief
Last updated Jul 15, 2026 00:00 UTC