Thyroid hormone analog therapy of patients with severe psychomotor retardation caused by mutations in the MCT8 thyroid hormone transporter: The Triac Trial.
Phase 2
Completed
- Conditions
- Allan-Herndon-Dudley SyndromeMCT8 patient100146991004373910010335
Recruitment & Eligibility
- Status
- Completed
- Sex
- Not specified
- Target Recruitment
- 15
Inclusion Criteria
clinical relevant and genetically confirmed mutation in the MCT8 gene, leading to the AHDS phenotype
Exclusion Criteria
- Major illness or recent major surgery (within 4 weeks) unrelated to AHDS
- Patients who are participating in ongoing RCTs of therapeutic interventions (including clinical trials of investigational medicinal products);
- Patients that have any major contra-indication for Triac treatment (severe cardiac decompensation (NYHA 4), coronary insufficiency, severe cardiac arrhytmias, Galactose intolerance, the Lapp lactose deficiency or glucose-galactose malabsorption)
Study & Design
- Study Type
- Interventional
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method <p>1) Serum TSH, T4, vrij T4, T3, rT3 and Triac levels</p><br>
- Secondary Outcome Measures
Name Time Method <p>1) Body weight, blood pressure and heart rate<br /><br>2) Serum levels of markers that reflect peripheral thyroid hormone action: a.o.<br /><br>serum steroid hormone binding globuline (SHBG) and lipids (liver), serum beta<br /><br>Ctx and alkalisch phosphatase (bone) and serum kreatine kinase (muscle).<br /><br>3) Motor function, using the Gross Motor Function Measure<br /><br>4) Cognitive function using the Bayley Scales of Infant Development III or<br /><br>Wechsler Preschool and Primary Scale of Intelligence II<br /><br>5) Adaptive behavior according to Vineland adaptive behavior<br /><br>scale<br /><br>6) Basal Metabolic Rate using the Doubly labeled Water method<br /><br>7) The frequency and nature of adverse events</p><br>