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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Experimental drug offers hope for babies with rare genetic brain condition
Disease control Expanded accessThis trial tests a drug called DITPA in male infants with MCT8 deficiency, a rare genetic disorder that causes severe intellectual disability and movement problems. The drug aims to improve thyroid hormone function in the brain. Only infants whose families have a history of the c…
Matched conditions: MCT8 (SLC16A2)-SPECIFIC THYROID HORMONE CELL TRANSPORTER DEFICIENCY
Sponsor: Roy E. Weiss, M.D. • Aim: Disease control
Last updated Jun 27, 2026 08:03 UTC
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Massive leukodystrophy biobank aims to unlock disease secrets
Knowledge-focused Recruiting nowThis study collects medical information and biological samples (like blood or tissue) from up to 12,000 people with leukodystrophies—rare disorders that damage the brain's white matter. Researchers will use this data to find new genetic causes, develop biomarkers for future trial…
Matched conditions: MCT8 (SLC16A2)-SPECIFIC THYROID HORMONE CELL TRANSPORTER DEFICIENCY
Sponsor: Children's Hospital of Philadelphia • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:55 UTC