Rescue of Infants With MCT8 Deficiency

NCT04143295 | Unknown

• 1 other identifier: 20180087
• Study Type: expanded_access
• Target: N/A
• Locations: 1 country
• Sites: 1

Brief Summary

Monocarboxylate Transporter 8 (MCT8) deficiency (that is also known as Allan-Herndon-Dudley syndrome) is a rare X-linked inherited disorder of brain development that causes severe intellectual disability and problems with movement. This condition, which occurs almost exclusively in males, disrupts development from before birth.

Conditions

Mct8 (Slc16A2)-Specific Thyroid Hormone Cell Transporter Deficiency

Interventions

Diiodothyropropionic acid (DITPA) DRUG

Drug Administration

Eligibility Criteria

• Age: Up to 18 Years
• Gender Eligibility Details: MCT8 mutation carrier mother with previously affected MCT8 deficient male will be screened for male fetal DNA as soon as she aware she is pregnant (week 4-7).
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)

You may qualify if:

• Genetic Confirmation: Male fetus or fetuses (including monozygotic twin pregnancies) must have a confirmed MCT8 gene mutation.
• Family History: A previously born child or children with a severe, typical phenotype and an MCT8 gene mutation identical to that of the fetus.
• Alternatively, the mother or a sister must have a relative with a known MCT8 defect.
• Parental Decision: Parental refusal to terminate the pregnancy despite the diagnosis of MCT8 deficiency.
• Compliance and Availability: Willingness of the parents to comply with all study procedures and ensure availability for the duration of the study.

You may not qualify if:

• Pregnancy-Related Factors: Dizygotic (non-identical) twin pregnancy (unless only one fetus is confirmed with the MCT8 mutation, and the unaffected fetus will not be treated).
• Parental decision to terminate the pregnancy.
• Maternal Medical Conditions: Hyperthyroidism requiring treatment. Significant liver or kidney insufficiency. Congestive heart failure. Hyperemesis gravidarum unresponsive to treatment.
• Significant cardiac conditions, including:
• Atrial fibrillation or other arrhythmias.
• Unstable angina.
• Coronary heart disease.
• Medications:
• Current use of sympathomimetic therapy. Anticoagulant therapy. Use of Cytochrome P450 2C9 (CYP2C9) inhibitors with a narrow therapeutic index.
• Other Factors: Major illness or recent major surgery within four weeks of baseline visit 1, unrelated to MCT8 deficiency.

Sponsors & Collaborators

• Roy E. Weiss, M.D.: lead

Study Sites (1)

University of Miami, Miller School of Medicine

Miami, Florida, 33136, United States

AVAILABLE

MeSH Terms

Conditions

Allan-Herndon-Dudley syndrome

Interventions

3,5-diiodothyropropionic acid

Study Officials

• Roy E Weiss, M.D.

  University of Miami

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Roy E Weiss, M.D.

CONTACT

(305) 243-1944; rweiss@med.miami.edu

Study Design

• Study Type: expanded access
• Sponsor Type: OTHER
• Responsible Party: SPONSOR INVESTIGATOR
• PI Title: Principal Investigator

Study Record Dates

• First Submitted: April 24, 2018
• First Posted: October 29, 2019
• Last Updated: December 11, 2025

Record last verified: 2025-12

Locations

US (1)