Rescue of Infants With MCT8 Deficiency (DITPA)

Roy E. Weiss, M.D.

Status and phase: Phase 3

Conditions: Mct8 (Slc16A2)-Specific Thyroid Hormone Cell Transporter Deficiency

Treatments: Drug: Diiodothyropropionic acid (DITPA)

Study type: Expanded Access

Funder types: Other

Identifiers

NCT04143295

20180087

Details and patient eligibility

About

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.

Enrollment: 10 estimated patients

Sex: Male

Ages: 3 days to 18 years old

Volunteers: No Healthy Volunteers

Inclusion and exclusion criteria

Inclusion Criteria

• 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.

Exclusion Criteria:

• 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.

Trial design

Primary purpose: Treatment

Allocation: Non-Randomized

Interventional model: Single Group Assignment

Masking: None (Open label)