Therapy of MCT8 patients with the thyroid hormone analog Triac.
- Conditions
- This therapuetical trial will be conducted in patient with the Allan-Herndon-Dudley Syndrome (AHDS), casued by mutations in the thyroid hormone transporter MCT8. This results in the characteristic clinical phenotype of severe psychomotor retardation due to local hypothyroidism in the brain, in combination with high serum T3 and high normal serum TSH levels that lead to local hyperthyroidism in tissues that do not dependent on MCT8, resulting in tachycardia, low body weight and muscle wasting.Therapeutic area: Diseases [C] - Hormonal diseases [C19]
- Registration Number
- EUCTR2014-000178-20-BE
- Lead Sponsor
- Erasmus Medical Centre
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Authorised-recruitment may be ongoing or finished
- Sex
- Male
- Target Recruitment
- 40
clinical relevant mutation in the MCT8 gene leading to the clinical phenotype of AHDS
Are the trial subjects under 18? yes
Number of subjects for this age range: 30
F.1.2 Adults (18-64 years) yes
F.1.2.1 Number of subjects for this age range 10
F.1.3 Elderly (>=65 years) no
F.1.3.1 Number of subjects for this age range
-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 clinical trial of medicinal product
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method Timepoint(s) of evaluation of this end point: These primary endpoints will be evaluated at baseline (t=0) and after 1 year of Triac treatment.<br>To optimize titration of the Triac dose and prevent overtreatment, primary end-points will be evaluated with an expected average of 2 weeks during months 1-3 of the trial. During months 4-12 these parameters will be evaluated with an expected average of 6 weeks.;Main Objective: (1)To determine the effect of Triac treatment on serum T3 and other TH levels;<br>(2)To determine the effect of Triac on the toxic effects of the hyperthyroid state in peripheral tissues;<br>;Secondary Objective: (1)To determine the effects of Triac treatment on the neurological phenotype.<br>(2)The registration of adverse events<br>;Primary end point(s): 1)Serum TSH, T4, vrij T4, T3, rT3 and Triac levels<br>
- Secondary Outcome Measures
Name Time Method