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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Could a single DNA test solve the mystery of rare brain diseases in kids?

Knowledge-focused Completed

This study looked at whether whole genome sequencing (a complete read of a person's DNA) can help diagnose leukodystrophies, a group of rare brain diseases that are hard to identify. Researchers enrolled 236 children with white matter abnormalities on brain scans but no known gen…

Matched conditions: MCT8 (SLC16A2)-SPECIFIC THYROID HORMONE CELL TRANSPORTER DEFICIENCY

Sponsor: Children's Hospital of Philadelphia • Aim: Knowledge-focused

Last updated Jun 27, 2026 07:56 UTC

MCT8 (SLC16A2)-specific thyroid hormone cell transporter deficiency

Get alerted when new MCT8 (SLC16A2)-specific thyroid hormone cell transporter deficiency trials appear

Could a single DNA test solve the mystery of rare brain diseases in kids?