MCT8 Deficiency/Allan-Herndon-Dudley Syndrome (AHDS)
Condition Description
MCT8 deficiency, also known as Allan-Herndon-Dudley syndrome (AHDS), is a chronic and severely debilitating disease caused by homozygous mutations in SLC16A2, resulting in alterations of the structure and function of MCT8, leading to impaired MCT8-mediated transport of thyroid hormone. MCT8 deficiency is characterized by severe intellectual and motor disability.
Status
Active and Recruiting Patients
Active Trials
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SPONSOR: Rare Thyroid Therapeutics
INDICATION: MCT8 Deficiency/ Allan-Herndon-Dudley Syndrome (AHDS)
PROTOCOL: MCT8-2021-3
DESCRIPTION: This is a double-blind, randomized phase 3 multicenter placebo-controlled study in at least 16 evaluable male participants diagnosed with MCT8 deficiency. Male participants, from 4 years of age (at randomization) and having demonstrated stable maintenance treatment with tiratricol, will be randomized to receive placebo or tiratricol for 30 days or until reaching rescue criterion (serum total triiodothyronine [T3] > upper limit of normal [ULN] of the participant's normal range, for a sample collected during the 30-day Randomized Treatment Period). The research hypothesis to be tested is that, for participants in the placebo group, removal of tiratricol will lead to an increase of serum total T3 concentration, measured by liquid chromatography with tandem mass spectrometry (LC/MS/MS), above the ULN and requirement of rescue treatment with tiratricol, compared to those who continue to receive tiratricol.
PHASE: 3
STATUS: Active
RECRUITING PATIENTS: Yes
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