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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 : March 10, 2022
Sponsor:
Information provided by (Responsible Party):
Roy E. Weiss, M.D., University of Miami

Tracking Information
First Submitted Date April 24, 2018
First Posted Date October 29, 2019
Last Update Posted Date March 10, 2022
 
Descriptive Information
Brief Title Rescue of Infants With MCT8 Deficiency
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.
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.

Study Type Expanded Access
Expanded Access Type Treatment IND/Protocol
Intervention Drug: Diiodothyropropionic acid
Drug Administration
Other Name: DITPA
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Expanded Access Status Available
Contacts
Contact: Roy E Weiss, M.D. (305) 243-1944 rweiss@med.miami.edu
Listed Location Countries United States
Removed Location Countries  
 
Administrative Information
NCT Number NCT04143295
Current Responsible Party Roy E. Weiss, M.D., University of Miami
Original Responsible Party Same as current
Current Study Sponsor Roy E. Weiss, M.D.
Original Study Sponsor Same as current
Collaborators Not Provided
Investigators
Principal Investigator: Roy E Weiss, M.D. Distinguished Chair, Professor/Chairman, Department of Medicine University of Miami Miller School of Medicine
PRS Account University of Miami
Verification Date February 2022