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
|Condition or disease||Intervention/treatment|
|Mct8 (Slc16A2)-Specific Thyroid Hormone Cell Transporter Deficiency||Drug: Diiodothyropropionic acid|
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|
|Official Title:||Rescue of Infants With Mct8 Deficiency Under Emergency Use Single Patient Expanded Access Treatment|
- Drug: Diiodothyropropionic acid
Drug AdministrationOther Name: DITPA
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
|Contact: Roy E Weiss, M.D.||(305) email@example.com|
|United States, Florida|
|University of Miami, Miller School of Medicine|
|Miami, Florida, United States, 33136|
|Contact: Roy E Weiss, M.D. 305-243-1944 firstname.lastname@example.org|
|Principal Investigator: Roy E Weiss, M.D.|
|Principal Investigator:||Roy E Weiss, M.D.||Distinguished Chair, Professor/Chairman, Department of Medicine University of Miami Miller School of Medicine|