In May 2013, the US FDA granted Orphan drug status to Diiodothyropropionic acid (DITPA) in the treatment of MCT8 deficiency. This was following the use of DITPA towards a child in Australia, under compassionate grounds. Theoretical considerations suggested TRIAC (triiodothyroacetate or tiratricol, a natural non-classical thyroid hormone) to be beneficial. In 2014, a case was demonstrated in which therapy with TRIAC in early childhood led to significant improvement of cognition and mobility. A first clinical trial demonstrated TRIAC to be safe and effective.
Allan–Herndon–Dudley syndrome
Townes–Brocks syndrome
Fryns-Aftimos syndrome
Flynn–Aird syndrome
Kearns–Sayre syndrome
Grisel's syndrome
Dennie–Marfan syndrome
Lujan–Fryns syndrome