Experimental drug offers hope for babies with rare genetic brain condition
NCT ID NCT04143295
First seen Jun 25, 2026 · Last updated Jun 27, 2026 · Updated 1 time
Summary
This trial tests a drug called DITPA in male infants with MCT8 deficiency, a rare genetic disorder that causes severe intellectual disability and movement problems. The drug aims to improve thyroid hormone function in the brain. Only infants whose families have a history of the condition and choose not to terminate the pregnancy are eligible.
What this could mean
Our plain-language read of the trial. This is informational only, not medical advice or a prediction.
- Active substance
- Diiodothyropropionic acid (DITPA)
- What this could lead to
- If it works, this could offer a treatment to improve brain development and movement in infants with MCT8 deficiency, potentially reducing severe disability.
- What could go wrong
- This is an early-stage trial with very few participants, so results may not apply broadly. The drug may not fully correct the underlying genetic problem, and side effects are unknown.
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.
- Lead sponsor
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Other sponsor
The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.
Who can take part
This study's own entry requirements. Only the study team can say for certain whether you qualify.
- Ages
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Up to 18 years
- Sex
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Male participants only
- Healthy volunteers
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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 Hide 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 * 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.
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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.
How to take part
Only the study team decides who joins. These are the ways to reach them.
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The places running it
1 site. The list below names each one and where it is.
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The official record
ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.
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A doctor treating you
A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.
Contacts and locations
Locations
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University of Miami, Miller School of Medicine
AVAILABLEMiami, Florida, 33136, United States
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