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Rescue of Infants With Mct8 Deficiency (DITPA)

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ClinicalTrials.gov Identifier: NCT04143295
Expanded Access Status : Available
First Posted : October 29, 2019
Last Update Posted : October 29, 2019
Sponsor:
Information provided by (Responsible Party):
Roy E. Weiss, M.D., University of Miami

Brief Summary:
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.

Condition or disease Intervention/treatment
Mct8 (Slc16A2)-Specific Thyroid Hormone Cell Transporter Deficiency Drug: Diiodothyropropionic acid

Detailed Description:

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. There is no sucking reflex and the child has marked hypotonia. Developmentally, unlike normal infants, affected males are unable to turn over from belly to back. Individuals with identical mutations have identical phenotypes and all individuals, regardless of the phenotype have severe neuropsychological impairment. Diagnosis is confirmed by demonstration of a mutation in the MCT8 gene (1,2).

MCT8-specific thyroid hormone cell-membrane transporter deficiency is characterized by severe cognitive deficiency, infantile hypotonia, diminished muscle mass and generalized muscle weakness, progressive spastic quadriplegia, joint contractures, and dystonic and/or athetoid movement with characteristic paroxysms or kinesigenic dyskinesias. Seizures occur in about 25% of cases. Most affected males never sit or walk independently or lose these abilities over time; most never speak or have severely dysarthric speech (1). Brain MRI obtained in the first few years of life shows transient delayed myelination, which improves by age four years (3). Although psychomotor findings observed in affected males do not occur in heterozygous females, the latter often have thyroid test abnormalities intermediate between affected and normal individuals.


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Study Type : Expanded Access
Expanded Access Type : Treatment IND/Protocol
Official Title: Rescue of Infants With Mct8 Deficiency Under Emergency Use Single Patient Expanded Access Treatment

Resource links provided by the National Library of Medicine



Intervention Details:
  • Drug: Diiodothyropropionic acid
    Drug Administration
    Other Name: DITPA

Information from the National Library of Medicine

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Ages Eligible for Study:   up to 3 Days   (Child)
Sexes Eligible for Study:   Male
Gender Based Eligibility:   Yes
Gender Eligibility Description:   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).
Criteria

Inclusion Criteria:

  • After confirmation of MCT8 gene mutation of the male fetus
  • A child or children previously born with severe, typical phenotype and MCT8 gene mutation identical to that of the fetus to be treated in the mother or a sister who has a relative with known MCT8 defect
  • Parental refusal to terminate the pregnancy

Exclusion Criteria:

  • Twin Pregnancy
  • Election to terminate pregnancy
  • Maternal hyperthyroidism requiring treatment
  • Patient with significant liver or kidney insufficiency
  • Congestive heart failure
  • Hyperemesis unresponsive to treatment
  • Significant maternal cardiac-related conditions (atrial fibrillation, other arrhythmia's, unstable angina coronary heart disease
  • sympathomimetic therapy
  • Anticoagulant therapy
  • Patients taking Cytochrome P450 2C9 (CYP2C9) inhibitors with narrow therapeutic index

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04143295


Contacts
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Contact: Roy E Weiss, M.D. (305) 243-1944 rweiss@med.miami.edu

Locations
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United States, Florida
University of Miami, Miller School of Medicine
Miami, Florida, United States, 33136
Contact: Roy E Weiss, M.D.    305-243-1944    rweiss@med.miami.edu   
Principal Investigator: Roy E Weiss, M.D.         
Sponsors and Collaborators
Roy E. Weiss, M.D.
Investigators
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Principal Investigator: Roy E Weiss, M.D. Distinguished Chair, Professor/Chairman, Department of Medicine University of Miami Miller School of Medicine

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Responsible Party: Roy E. Weiss, M.D., Principal Investigator, University of Miami
ClinicalTrials.gov Identifier: NCT04143295     History of Changes
Other Study ID Numbers: 20180087
First Posted: October 29, 2019    Key Record Dates
Last Update Posted: October 29, 2019
Last Verified: October 2019