MCT8 (SLC16A2)-SPECIFIC THYROID HORMONE CELL TRANSPORTER DEFICIENCY
Clinical trials for MCT8 (SLC16A2)-SPECIFIC THYROID HORMONE CELL TRANSPORTER DEFICIENCY explained in plain language.
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Hope for babies with rare brain disorder: new trial offers early rescue
Disease control AVAILABLEThis study aims to help male infants with a rare genetic condition called MCT8 deficiency, which causes severe intellectual disability and movement problems. The trial enrolls babies with a confirmed gene mutation whose families choose not to end the pregnancy. The goal is to sta…
Matched conditions: MCT8 (SLC16A2)-SPECIFIC THYROID HORMONE CELL TRANSPORTER DEFICIENCY
Sponsor: Roy E. Weiss, M.D. • Aim: Disease control
Last updated May 16, 2026 23:47 UTC
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Massive leukodystrophy biobank aims to unlock disease secrets
Knowledge-focused Recruiting nowThis study collects medical information and biological samples from up to 12,000 people with leukodystrophies—rare brain disorders affecting white matter. Researchers will use this data to find new genetic causes, develop biomarkers, and better understand how these diseases progr…
Matched conditions: MCT8 (SLC16A2)-SPECIFIC THYROID HORMONE CELL TRANSPORTER DEFICIENCY
Sponsor: Children's Hospital of Philadelphia • Aim: Knowledge-focused
Last updated May 13, 2026 16:02 UTC