CREATINE TRANSPORTER DEFICIENCY
Clinical trials for CREATINE TRANSPORTER DEFICIENCY explained in plain language.
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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…
Matched conditions: CREATINE TRANSPORTER DEFICIENCY
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…
Matched conditions: CREATINE TRANSPORTER DEFICIENCY
Sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) • Aim: Knowledge-focused
Last updated Jun 27, 2026 13:03 UTC