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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Light-Based brain scan could revolutionize diagnosis of rare genetic disorders
Diagnosis Recruiting nowThis study is testing whether a non-invasive brain imaging technique called fNIRS can reliably measure brain function in people with Fragile X syndrome or Creatine Transporter Deficiency. Researchers will use a cartoon-based visual stimulus to record brain activity and compare it…
Phase: NA • Sponsor: Hospices Civils de Lyon • Aim: Diagnosis
Last updated Jun 27, 2026 12:34 UTC
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Can a photo help diagnose a rare brain disorder?
Knowledge-focused Recruiting nowThis study looks at facial features of males aged 2 to 40 with creatine transporter deficiency (CTD), a genetic disorder that causes intellectual disability, seizures, and behavioral issues. Researchers will examine photos of participants to see if they share common facial traits…
Sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) • Aim: Knowledge-focused
Last updated Jun 27, 2026 13:03 UTC
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New study paves way for future treatments in rare brain disorder
Knowledge-focused Recruiting nowThis study looks at people with creatine transporter deficiency, a rare genetic condition that causes intellectual disability, seizures, and movement problems. Researchers want to find the best tests to measure symptoms, since many standard tests are too hard for these patients. …
Phase: NA • Sponsor: Hospices Civils de Lyon • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:37 UTC