Clinical Trials on SLC6A1
Total 7 results
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Weill Medical College of Cornell UniversityChildren's Hospital Colorado; SLC6A1 Connect; STXBP1 Foundation; Clara Inspired; University... and other collaboratorsEnrolling by invitationDevelopmental and Epileptic Encephalopathy | STXBP1 Encephalopathy With Epilepsy, SLC6A1 Neurodevelopmental DisorderUnited States
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Roy E. Weiss, M.D.AvailableMct8 (Slc16A2)-Specific Thyroid Hormone Cell Transporter DeficiencyUnited States
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Atsena Therapeutics Inc.Active, not recruitingLeber Congenital Amaurosis | LCA | LCA1United States
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Simons SearchlightBoston Children's Hospital; Geisinger Clinic; Simons FoundationRecruitingSMARCA4 Gene Mutation | DDX3X | 16P11.2 Deletion Syndrome | 16p11.2 Duplications | 1Q21.1 Deletion | 1Q21.1 Microduplication Syndrome (Disorder) | ACTL6B | ADNP | AHDC1 | ANK2 | ANKRD11 | ARID1B | ASH1L | BCL11A | CHAMP1 | CHD2 | CHD8 | CSNK2A1 | CTBP1 | CTNNB1 Gene Mutation | CUL3 | DNMT3A | DSCAM | DYRK1A | FOXP1 | GRIN2A | GRIN2B | HIVEP2-Related Intellectual... and other conditionsUnited States
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National Human Genome Research Institute (NHGRI)RecruitingMetabolic Disease | Purine-Pyrimidine Metabolism | AICDA, OMIM *605257, Immunodeficiency With Hyper-IgM, Type 2; HIGM2 | UNG, OMIM *191525, Hyper-IgM Syndrome 5 | NT5C3A<TAB>, OMIM *606224, Anemia, Hemolytic, Due to UMPH1 Deficiency | UMPS, OMIM *613891, Orotic Aciduria | DHODH, OMIM *126064,... and other conditionsUnited States
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Children's Hospital of PhiladelphiaIllumina, Inc.Active, not recruitingMucopolysaccharidoses | Leukodystrophy | Adrenoleukodystrophy | Adrenomyeloneuropathy | X-linked Adrenoleukodystrophy | Gangliosidoses | Metachromatic Leukodystrophy | Krabbe Disease | Refsum Disease | Cadasil | Sjogren-Larsson Syndrome | Allan-Herndon-Dudley Syndrome | White Matter Disease | GM2 Gangliosidosis | Zellweger... and other conditionsUnited States
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Children's Hospital of PhiladelphiaEli Lilly and Company; University of Pennsylvania; Takeda; National Institute of... and other collaboratorsRecruitingMucopolysaccharidoses | Leukoencephalopathies | Leukodystrophy | Adrenoleukodystrophy | Adrenomyeloneuropathy | X-linked Adrenoleukodystrophy | Gangliosidoses | Metachromatic Leukodystrophy | Krabbe Disease | Refsum Disease | Cadasil | Sjogren-Larsson Syndrome | Allan-Herndon-Dudley Syndrome | White Matter Disease | GM2... and other conditionsUnited States