Tiratricol for treating monocarboxylate transporter 8 deficiency (Allan-Herndon-Dudley syndrome)

Tiratricol is in clinical development for the treatment of monocarboxylate transporter 8 (MCT8) deficiency, also known as Allan-Herndon-Dudley syndrome (AHDS). MCT8 deficiency is a ultra-rare genetic disorder mainly seen in males although rare females’ cases have been reported. It is caused by a genetic change that results in the abnormal function of a transporter protein called MCT8. MCT8 enables the transport of a thyroid hormone (T3) into the brain which is needed for cell development. Dysfunctional MCT8 protein means T3 hormone cannot enter the brain which leads to increased T3 levels in the blood and in organs. This results in severe developmental, intellectual, and motor disabilities, as well as weight issues, muscle waste, and heart problems. MCT8 deficiency is a lifelong debilitating and life-threatening disorder, associated with poor survival. There are currently no treatments for MCT8 deficiency, patients only receive supportive care for symptoms.