EmcitateMonocarboxylate transporter 8 (MCT8) deficiency (Allan-Herndon-Dudley syndrome)
New molecular entity
Development and Regulatory status
Phase II Clinical Trials
An analogue of thyroid hormone T3, designed to restore dysfunctional thyroid hormone signalling. Since, cellular uptake of tiratricol does not depend on functional MCT8, in AHDS patients tiratricol will be available in tissues that require functional MCT8
AHD syndrome is a rare genetic X-linked disorder of brain development that causes moderate to severe intellectual disability and problems with movement. It occurs exclusively in males. It is due to mutations in the MCT8 gene, which is responsible for transport of T3 into neurons. Most children have hypotonia and muscle hypoplasia, and usually develop joint contractures as they get older. About 25 families with individuals affected by this condition have been reported worldwide [1,2].
Monocarboxylate transporter 8 (MCT8) deficiency (Allan-Herndon-Dudley syndrome)