Mct8 (Slc16A2)-Specific Thyroid Hormone Cell Transporter Deficiency: Clinical Trials

3 trials for Mct8 (Slc16A2)-Specific Thyroid Hormone Cell Transporter Deficiency, newest first

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1 available, 1 completed, 1 recruiting. .

Follow Mct8 (Slc16A2)-Specific Thyroid Hormone Cell Transporter Deficiency: new trials by email Literature Review of Mct8 (Slc16A2)-Specific Thyroid Hormone Cell Transporter Deficiency trials Research Report on Mct8 (Slc16A2)-Specific Thyroid Hormone Cell Transporter Deficiency

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Tick up to 5 trials to compare them side by side (eligibility, arms, endpoints, adverse events) in a Literature Matrix.

TrialPhaseStatusSponsorEnrollmentStartUpdated
LeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for Leukodystrophies
Leukodystrophy, White Matter Disease
CompletedChildren's Hospital of Philadelphia2362017-01-062025-11-10
The Myelin Disorders Biorepository Project
Leukodystrophy, White Matter Disease
RecruitingChildren's Hospital of Philadelphia120002016-12-082025-10-23
Rescue of Infants With MCT8 Deficiency
Diiodothyropropionic acid (DITPA) - Mct8 (Slc16A2)-Specific Thyroid Hormone Cell Transporter Deficiency
AvailableRoy E. Weiss, M.D.2025-12-11

Narrower conditions

Allan-Herndon-Dudley syndrome (3)  ·  Adrenoleukodystrophy (2)  ·  Aicardi-Goutieres syndrome (2)  ·  Alexander Disease (2)  ·  Alexanders leukodystrophy (2)  ·  Attention Deficit Disorder with Hyperactivity (2)  ·  CADASIL (2)  ·  Canavan Disease (2)  ·  Charcot-Marie-Tooth Disease (2)  ·  Cockayne Syndrome (2)  ·  Gangliosidoses (2)  ·  Gangliosidoses, GM2 (2)  ·  Leukodystrophy, Globoid Cell (2)  ·  Leukodystrophy, Hypomyelinating, 5 (2)  ·  Leukodystrophy, Hypomyelinating, 6 (2)

Broader conditions

Abnormalities, Multiple (2)  ·  Adrenal Gland Diseases (2)  ·  Adrenal Insufficiency (2)  ·  Arthritis (2)  ·  Arthritis, Rheumatoid (2)  ·  Attention Deficit and Disruptive Behavior Disorders (2)  ·  Autoimmune Diseases (2)  ·  Bone Diseases (2)  ·  Bone Diseases, Developmental (2)  ·  Brain Diseases (2)  ·  Brain Diseases, Metabolic (2)  ·  Brain Diseases, Metabolic, Inborn (2)  ·  Brain Infarction (2)  ·  Brain Ischemia (2)  ·  Carbohydrate Metabolism, Inborn Errors (2)

Interventions

3,5-diiodothyropropionic acid (1)

Sponsors

Children's Hospital of Philadelphia (2)  ·  Roy E. Weiss, M.D. (1)

Countries

United States (3)

Top investigators

Adeline Vanderver, MD (2)  ·  Roy E Weiss, M.D. (1)

Results publications

PMID 32342562, PMID 32749716

NIH funding

U01NS106845 (1), U54NS115052 (1)