Mct8 (Slc16A2)-Specific Thyroid Hormone Cell Transporter DeficiencyDITPANCT04143295
Rescue of Infants With MCT8 Deficiency
A study testing Diiodothyropropionic acid (DITPA) in people with Mct8 (Slc16A2)-Specific Thyroid Hormone Cell Transporter Deficiency, run by Roy E. Weiss, M.D. at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages Up to 18 years, men only
- Conditions the study is for
- Mct8 (Slc16A2)-Specific Thyroid Hormone Cell Transporter Deficiency
- What is being tested?
- Diiodothyropropionic acid (DITPA)
- How many people
- Not given
- Where
- 1 siteUnited States
- Study dates
- Start not givento not given
- Phase
- Expanded access
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Up to 18 years
- Men only
- No healthy volunteers
- Child, Adult
Who may be able to join
- 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.
Who cannot join
- 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.
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- 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 locations and contacts
1 site in 1 country.
United States1 site
- Available
University of Miami, Miller School of Medicine
Miami, Florida, 33136
Roy E Weiss, M.D., (305) 243-1944, rweiss@med.miami.edu
Roy E Weiss, M.D.
About this study
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.
- Being tested
- Diiodothyropropionic acid (DITPA)
- Medical subject headings
- Allan-Herndon-Dudley syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Diiodothyropropionic acid (DITPA)Drug
Drug Administration
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted29 Oct 2019
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Mct8 (Slc16A2)-Specific Thyroid Hormone Cell Transporter DeficiencyStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Expanded access
Sponsor and investigators
- Lead sponsor
- Roy E. Weiss, M.D.
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor-investigator, Roy E. Weiss, M.D., University of Miami
- Investigators
- Roy E Weiss, M.D., Principal investigator, University of Miami
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04143295
- Sponsor's protocol ID
- 20180087
- Acronym
- DITPA
- Status last verified
- Dec 2025
- First submitted
- 24 Apr 2018
- Last updated
- 11 Dec 2025
- Results posted
- No
Study at a glance
From the registry record, last updated by the sponsor on 11 Dec 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Rescue of Infants With MCT8 Deficiency
- ClinicalTrials.gov ID
- NCT04143295
- Acronym / sponsor ID
- DITPA / 20180087
- Study type
- Expanded access
- Recruitment status
- Available
- Lead sponsor
- Roy E. Weiss, M.D.University, hospital or other
- First posted
- 29 Oct 2019 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
Who may qualify
- Ages
- Up to 18 years
- Sex
- Male only
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
Key inclusion criteria (5 listed)
- 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.
Key exclusion criteria (10 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Diiodothyropropionic acid (DITPA)Drug Administration | Drug | – |
Primary outcome
Not reported in the source record.
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 11 Dec 2025.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Roy E Weiss, M.D. principal investigator
University of Miami
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Diiodothyropropionic acid (DITPA) in people with Mct8 (Slc16A2)-Specific Thyroid Hormone Cell Transporter Deficiency, run by Roy E. Weiss, M.D. at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 10 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 11 Dec 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Roy E Weiss, M.D. ((305) 243-1944, rweiss@med.miami.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 11 Dec 2025.