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Experimental drug shows promise for rare genetic syndrome in toddlers

NCT ID NCT02396459

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing This study
Running, but no longer taking on new participants.
Completed
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Jun 25, 2026 · Last updated Jun 27, 2026 · Updated 1 time

Summary

This phase 2 trial tests the drug tiratricol (Triac) in 22 young boys (up to 30 months old) with MCT8 deficiency, also known as Allan-Herndon-Dudley syndrome. The goal is to see if the drug can improve brain development and reduce harmful thyroid effects in the body. Participants receive tiratricol for 96 weeks, with an option to continue for 3 more years.

What this could mean

Our plain-language read of the trial. This is informational only, not medical advice or a prediction.

Active substance
Tiratricol (also called Triac)
What this could lead to
If successful, this could point toward a treatment that improves motor skills and brain development in young boys with this rare, severe disorder.
What could go wrong
This is a small, early-phase trial with only 22 participants, so results may not apply to all patients. The treatment may not work or could have side effects.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Phase

Phase 2

Tests whether the treatment actually works, and watches for side effects, in a larger group.

Participants

22 people

The number who actually took part.

Started

Dec 2020

Expected to finish

Aug 2027

An estimate. End dates often move.

Lead sponsor

A company

The lead sponsor is a pharmaceutical, biotech, or medical-device company.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Ages

Up to 30 months

Sex

Male participants only

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

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.

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Conditions

The condition(s) this trial relates to.

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Contacts and locations

Locations

  • Charité - Universitätsmedizin Berlin Institut fur experimental paediatrische endokrinologie

    Berlin, 13353, Germany

  • Charles University and Motol University Hospital; The department of peadiatrics of the 2nd faculty of medicine

    Prague, 15006, Czechia

  • Children's Hospital of Philadelphia

    Philadelphia, Pennsylvania, 19104, United States

  • Erasmus MC

    Rotterdam, 3015 GD, Netherlands

  • Oregon Health & Science University (OHSU) Doernbecher Childrens Hospital

    Portland, Oregon, 97239, United States

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