Cerebral creatine deficiency syndrome
MONDO:0000456Creatine deficiency syndrome (CDS) comprises a group of inborn errors of creatine metabolism, characterized by a global developmental delay, intellectual disability and associated neurological (seizures, movement disorders, myopathy) and behavioral manifestions. CDS includes two creatine biosynthesis disorders; guanidinoacetate methyltransferase deficiency and L- Arginine: glycine amidinotransferase deficiency, as well as X-linked creatine transporter deficiency.
Also known as: CCDS, CDS, cerebral creatine deficiency syndrome, creatine deficiency syndrome
6 clinical trials for this condition and its sub-types.
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Broader categories
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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…
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 Sep 09, 2026 17:58 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. …
Sponsor: Hospices Civils de Lyon • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:37 UTC