Rescue of Infants With MCT8 Deficiency
Trial statusAvailable
Trial phaseNot listed
Trial typeExpanded Access
Biological sexMale
AgeUp to 18
SponsorRoy E. Weiss, M.D.
About this trial
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.
Eligibility criteria
Qualifiers
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.
Disqualifiers
Atrial fibrillation or other arrhythmias.
Unstable angina.
Coronary heart disease.
Trial design
Treatments tested in this trial
- Diiodothyropropionic acid (DITPA)
Treatment groups
No treatment groups listed
Sponsors and collaborators
Roy E. Weiss, M.D.
Lead sponsor
University of Miami
Sponsor institution
Source ClinicalTrials.gov