Parents of children with Allan-Herndon-Dudley syndrome now have the first FDA-approved medicine for the condition. On Sept. 28, the FDA approved Emcitate (tiratricol) to treat excess thyroid hormone in the bloodstream, which strains the heart and metabolism in people with MCT8 deficiency, the genetic disorder behind the syndrome. The drug was studied in patients ranging from infants to adults, but it does not treat the brain effects that shape daily life for most families.
That distinction is the most important point for parents. MCT8 deficiency, which mainly affects boys and men, keeps thyroid hormone from reaching the brain while too much of it builds up in the rest of the body. Many patients cannot walk or sit on their own, have little or no speech, have intellectual disability, and have trouble feeding, according to the FDA.
