Clinical Trials on Hereditary Neuropathy With Liability to Pressure Palsies in United States
Total 15 results
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University of UlsterDSM Nutritional Products, Inc.UnknownParticipants With the MTHFR 677TT GenotypeUnited Kingdom
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Sanford HealthNational Ataxia Foundation; Beyond Batten Disease Foundation; Pitt Hopkins Research... and other collaboratorsRecruitingMitochondrial Diseases | Retinitis Pigmentosa | Myasthenia Gravis | Eosinophilic Gastroenteritis | Multiple System Atrophy | Leiomyosarcoma | Leukodystrophy | Anal Fistula | Spinocerebellar Ataxia Type 3 | Friedreich Ataxia | Kennedy Disease | Lyme Disease | Hemophagocytic Lymphohistiocytosis | Spinocerebellar Ataxia... and other conditionsUnited States, Australia
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Hugo W. Moser Research Institute at Kennedy Krieger...RecruitingNeurodegenerative Diseases | Ataxia | Cerebellar Ataxia | Leukodystrophy | Adrenomyeloneuropathy | LBSL | Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Lactate Elevation | Leukoencephalopathy With Brain Stem and Spinal Cord Involvement and High Lactate Syndrome (Disorder)United States
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ProgenaBiomeRecruitingAutism Spectrum Disorder | Autistic Disorder | Autism | Autism, Akinetic | Autism; Atypical | Autism; Psychopathy | Autism Fragile Syndrome X | Autism With High Cognitive Abilities | Autism-Related Speech Delay | Autism, Susceptibility to, 6 | Autism Spectrum Disorder High-Functioning | Autistic Thinking | Autism... and other conditionsUnited States
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Mirum Pharmaceuticals, Inc.Children's Hospital Medical Center, CincinnatiCompletedCholestasis | Peroxisomal Disorders | Adrenoleukodystrophy | Zellweger Syndrome | Infantile Refsum's DiseaseUnited States
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Masonic Cancer Center, University of MinnesotaRecruitingHurler Syndrome | Sphingolipidoses | Peroxisomal Disorders | Metachromatic Leukodystrophy | Alpha-Mannosidosis | Hunter Syndrome | Mucopolysaccharidosis Disorders | Maroteaux Lamy Syndrome | Sly Syndrome | Fucosidosis | Aspartylglucosaminuria | Glycoprotein Metabolic Disorders | Recessive Leukodystrophies | Globoid... 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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Cure CMDRecruitingEmery-Dreifuss Muscular Dystrophy | Congenital Myasthenic Syndrome | Limb-Girdle Muscular Dystrophy | Congenital Muscular Dystrophy With ITGA7 (Integrin Alpha-7) Deficiency | Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy and Abnormal Glycosylation of Dystroglycan With Severe Epilepsy) and other conditionsUnited States
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Nemours Children's ClinicRecruitingCharcot-Marie-Tooth Disease | Motor Neuron Disease | Amyotrophic Lateral Sclerosis | Muscular Dystrophy | Spinal Muscular Atrophy | Neuromuscular Disease | Spinal Muscular Atrophy With Respiratory Distress 1 | Peroneal Muscular AtrophyUnited States
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Children's Hospital Medical Center, CincinnatiRecruitingNeurofibromatosis 1 | Noonan Syndrome | Legius Syndrome | Cardiofaciocutaneous Syndrome | Costello Syndrome | SYNGAP1-Related Intellectual Disability | DLG4 | RAS Mutation | Noonan Syndrome With Multiple Lentigines | Noonan Neurofibromatosis Syndrome | Smith-Kingsmore Syndrome | MTOR Gene Mutation | GATOR-1 Gene... and other conditionsUnited States
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UK Kidney AssociationRecruitingVasculitis | AL Amyloidosis | Tuberous Sclerosis | Fabry Disease | Cystinuria | Focal Segmental Glomerulosclerosis | IgA Nephropathy | Bartter Syndrome | Pure Red Cell Aplasia | Membranous Nephropathy | Atypical Hemolytic Uremic Syndrome | Autosomal Dominant Polycystic Kidney Disease | Cystinosis | Nephronophthisis | BK Nephropathy and other conditionsUnited Kingdom
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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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Thomas Jefferson UniversityRecruitingStroke | Cerebral Palsy | Amyotrophic Lateral Sclerosis | Muscular Dystrophies | Spinal Cord Injuries | Hemiparesis | Spinal Muscular Atrophy | Quadriplegia | Arthrogryposis | Neurologic Diseases | Charcot-Marie-Tooth | Weakness of Extremities as Sequela of Stroke | Weakness Due to Upper Motor Neuron Dysfunction | Arm ParalysisUnited 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
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RTI InternationalEunice Kennedy Shriver National Institute of Child Health and Human Development... and other collaboratorsEnrolling by invitationPrimary Hyperoxaluria Type 3 | Diabetes Mellitus | Hemophilia A | Hemophilia B | Hereditary Fructose Intolerance | Cystic Fibrosis | Factor VII Deficiency | Phenylketonurias | Sickle Cell Disease | Dravet Syndrome | Duchenne Muscular Dystrophy | Prader-Willi Syndrome | Fragile X Syndrome | Chronic Granulomatous Disease and other conditionsUnited States