Product information and disease descriptionPlace of product in therapyApproaches to treatmentCurrent treatment options and standard of care
Limitations of current therapies
2 evidence topics · 5 sources
Summary
Available therapies address peripheral thyrotoxicosis and individual symptoms; none has been shown to restore neurodevelopment. The 2024 European Thyroid Association guideline states that no available treatment regimen has rescued the neurocognitive phenotype and that the effectiveness of supportive neurological and gastrointestinal interventions has not been evaluated in MCT8 deficiency. Levothyroxine monotherapy did not improve neurodevelopment and in some cases aggravated peripheral thyrotoxicosis. In Triac Trial II, in participants younger than 30 months at enrollment, tiratricol reduced total serum T3 but did not meet its co-primary GMFM-88 and BSID-III gross motor endpoints compared with natural history scores from Triac Trial I. In a case series of 12 participants receiving combined levothyroxine and propylthiouracil, serum thyroid hormone concentrations normalized, but metabolic and physical parameters did not differ significantly between baseline and the last encounter, and the guideline advises weighing the risk of severe propylthiouracil adverse effects. Supportive care is inconsistently delivered: in an international parent registry, 11 of 36 participants received professional dietary advice and 2 of 16 participants with feeding problems had a feeding tube.