This study will investigate the effect of treatment with tiratricol (also called Triac) in young boys (≤30 months) with MCT8 deficiency (also called the Allan-Herndon-Dudley syndrome (AHDS)). The hypothesis tested is that treatment with tiratricol will have a beneficial effect on the hypothyroid state in the brain as well as the hyperthyroid state in peripheral organs and tissues in these patients. Patients will initially be treated for 96 weeks with tiratricol, treatment effect on neurodevelopment impairment caused by hypothyroidism and peripheral thyrotoxicosis will be evaluated after 96 weeks treatment. Patients will be offered to continue on treatment for an additional 3 years.
Eligibility
Sex
MALE
Min age
—
Max age
30 Months
Healthy volunteers
No
Inclusion Criteria:
* Signed and dated informed consent form from the parents or legal guardian.
* Parents stated willingness to comply with all study procedures and availability for the duration of the study.
* The participant should be aged between 0 and 30 months on the day of inclusion.
* The participant should be male and have a pathogenic mutation in the MCT8 gene.
Exclusion Criteria:
* Previous treatment with tiratricol.
* Previous treatment with LT4 and/or PTU and/or other anti-thyroid medication for a period longer than three months. Patients previously treated with LT4 for a shorter period than 3 months may be included in the study (baseline visit) six weeks (or longer) after last dose of LT4 if two consecutive analyses show stable TFT\*. Patients treated with PTU and/or other anti-thyroid medication for a shorter period than three months may be included in the study (baseline visit) six weeks (or longer) after last dose.
* Major illness or recent major surgery (within four weeks of baseline visit 1) unrelated to MCT8 deficiency.
* Known allergic reactions to components of the IMP. Patients with galactose intolerance, Lapp lactase deficiency or malabsorption of glucose or galactose (the IMP contains lactose).
* Treatment with another investigational drug or participation in other interventional trial within three months prior to baseline visit 1.
Primary outcome measure(s)
Gross Motor Function Measure 88 (GMFM 88) total score — 96 weeks, Year 3, Year 4 and Year 5 To evaluate the effects of tiratricol on neurodevelopment in young MCT8 deficiency patients, measured by the Gross Motor Function Measure (GMFM)-88 assessment. Potential result values range from 0 to 100%, the latter being representative for a 4-year old healthy child. A high score is equivalent to better/more neurodevelopment and is therefore a better outcome than a low score.
Bayley Scales of Infant Development III Gross Motor Skill Domain score — 96 weeks, Year 3, Year 4 and Year 5 To evaluate the effect of tiratricol treatment on neurodevelopment measured by the Bayley Scales of Infant Development (BSID-III) Gross Motor Skill Domain score. Potential total raw scores range from 0-72, and can be age-adjusted before analysis. A high score is equivalent to better/more neurodevelopment and is therefore a better outcome than a low score
Trial sites (5)
Facility
City
Region
Status
Oregon Health & Science University (OHSU) Doernbecher Childrens Hospital
Portland
Oregon
Children's Hospital of Philadelphia
Philadelphia
Pennsylvania
Charles University and Motol University Hospital; The department of peadiatrics of the 2nd faculty of medicine
Prague
Czechia
Charité - Universitätsmedizin Berlin Institut fur experimental paediatrische endokrinologie
Berlin
Germany
Erasmus MC
Rotterdam
Netherlands
Official registry record
This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.
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