Withdrawal of Tiratricol Treatment in Males with Monocarboxylate Transporter 8 Deficiency (MCT8 Deficiency)

Description

This is a double-blind, randomized phase 3 multicenter placebo-controlled study in at least 16 evaluable male participants diagnosed with MCT8 deficiency. Male participants, from 4 years of age (at randomization) and having demonstrated stable maintenance treatment with tiratricol, will be randomized to receive placebo or tiratricol for 30 days or until reaching rescue criterion (serum total triiodothyronine \[T3\] \> upper limit of normal \[ULN\] of the participant's normal range, for a sample collected during the 30-day Randomized Treatment Period). The research hypothesis to be tested is that, for participants in the placebo group, removal of tiratricol will lead to an increase of serum total T3 concentration, measured by liquid chromatography with tandem mass spectrometry (LC/MS/MS), above the ULN and requirement of rescue treatment with tiratricol, compared to those who continue to receive tiratricol.

Conditions

Monocarboxylate Transporter 8 Deficiency, Allan-Herndon-Dudley Syndrome

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Study Overview

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Study Details

Study overview

This is a double-blind, randomized phase 3 multicenter placebo-controlled study in at least 16 evaluable male participants diagnosed with MCT8 deficiency. Male participants, from 4 years of age (at randomization) and having demonstrated stable maintenance treatment with tiratricol, will be randomized to receive placebo or tiratricol for 30 days or until reaching rescue criterion (serum total triiodothyronine \[T3\] \> upper limit of normal \[ULN\] of the participant's normal range, for a sample collected during the 30-day Randomized Treatment Period). The research hypothesis to be tested is that, for participants in the placebo group, removal of tiratricol will lead to an increase of serum total T3 concentration, measured by liquid chromatography with tandem mass spectrometry (LC/MS/MS), above the ULN and requirement of rescue treatment with tiratricol, compared to those who continue to receive tiratricol.

Withdrawal of Tiratricol Treatment in Males with Monocarboxylate Transporter 8 Deficiency (MCT8 Deficiency): a Double-blind, Randomized, Placebo-controlled Study

Withdrawal of Tiratricol Treatment in Males with Monocarboxylate Transporter 8 Deficiency (MCT8 Deficiency)

Condition
Monocarboxylate Transporter 8 Deficiency
Intervention / Treatment

-

Contacts and Locations

Atlanta

Rare Disease Research, LLC, Atlanta, Georgia, United States, 30329

Saint Louis

SSM Health Cardinal Glennon Children's Hospital, Saint Louis, Missouri, United States, 63104

Hillsborough

Rare Disease Research, LLC, Hillsborough, North Carolina, United States, 27278

Philadelphia

Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States, 19104

Webster

Tranquil Clinical and Research Consulting Services, Webster, Texas, United States, 77598

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility Criteria

  • 1. Male participants diagnosed with a pathogenic mutation in the MCT8 gene, confirmed with a genetic test.
  • 2. Serum total T3 concentration above the ULN of the age specific normal range:
  • 1. at the time of diagnosis (or the closest sample taken prior to first ever treatment with tiratricol) for participants who are currently treated with tiratricol
  • 2. in the Screening Visit sample, or most recent standard of care sample prior to screening, for participants who have never received and/or currently not receiving tiratricol.
  • 3. Participants will be aged 4 years or older at the time of randomization. Participants entering screening who are \<4 years of age but expected to be aged 4 years at randomization should be discussed with the medical monitor.
  • 4. Signed and dated informed consent form from the parents or legal guardian.
  • 1. Major illness or recent major surgery unrelated to MCT8 deficiency (in the principal investigator's judgement), defined as:
  • * Conditions requiring repeated hospitalizations that are likely to confound ability to participate in the trial.
  • * Major illness in the 3 months prior to the screening visit that is likely to confound the ability of the participant to participate fully within the trial and/or confound the assessment of serum total T3 and/or safety.
  • * Major surgery within the 3 months prior to the screening visit or planned to take place during the study, including but not limited to major abdominal/thoracic/neurosurgical procedures.
  • * Major/minor abdominal and/or maxillofacial surgery that may inhibit the administration and/or absorption of study drug.
  • 2. Body weight \<10 kg at the Screening Visit.
  • 3. Patients who are participating, or intend to participate, in other therapeutic and/or interventional clinical studies during the study period.
  • 4. History of allergic reactions to components of tiratricol or any excipients in the investigational product (IP).
  • 5. Participants with any contra-indication for treatment with tiratricol or any excipients in the IP.
  • 6. Participants using other T3 analogues, levothyroxine, or propylthiouracil.
  • 1. Confirmation that the "Stable Dose Criterion" has been met.
  • 2. Absence of any new or exacerbated medical or surgical condition that fulfils Exclusion criterion #1.
  • 3. Confirmation that participant is at least 4 years of age at the time of randomization.

Ages Eligible for Study

4 Years to

Sexes Eligible for Study

MALE

Accepts Healthy Volunteers

No

Collaborators and Investigators

Rare Thyroid Therapeutics International AB,

Andrew J. Bauer, MD, PRINCIPAL_INVESTIGATOR, Children's Hospital of Philadelphia

W. E. Visser, MD, PRINCIPAL_INVESTIGATOR, Erasmus Medical Center

Study Record Dates

2025-06