Allan-Herndon-Dudley syndrome
MONDO:0010354A syndrome with neuromuscular involvement characterized by infantile hypotonia, muscular hypoplasia, spastic paraparesis with dystonic/athetoic movements, and severe cognitive deficiency.
Also known as: AHDS, ALLAN-Herndon syndrome, Allan-Herndon-Dudley syndrome, MCT8 deficiency, MCT8-Specific Thyroid Hormone Cell Transporter Deficiency, MCT8-specific thyroid hormone cell Membrane transporter deficiency, X-linked intellectual disability-hypotonia syndrome, monocarboxylate transporter 8 deficiency
6 clinical trials for this condition and its sub-types.
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MCT8 deficiency drug withdrawal trial raises questions about lifelong treatment
Disease control CompletedThis phase 3 study looked at what happens when males with MCT8 deficiency (a rare genetic condition affecting thyroid hormone transport) stop taking tiratricol. Twenty participants who had been stable on tiratricol were randomly assigned to either continue the drug or receive a p…
Phase: PHASE3 • Sponsor: Rare Thyroid Therapeutics International AB • Aim: Disease control
Last updated Jun 27, 2026 12:05 UTC
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Could a single DNA test solve the mystery of rare brain diseases in kids?
Knowledge-focused CompletedThis 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…
Sponsor: Children's Hospital of Philadelphia • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:56 UTC