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Clinical Trials on Autosomal Recessive Ataxia, Beauce Type
Total 146 results
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Vico Therapeutics B. V.RecruitingHuntington Disease | Spinocerebellar Ataxia Type 3 | Spinocerebellar Ataxia Type 1Israel, Germany, United Kingdom, Poland, Denmark, Netherlands, France
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Murdoch Childrens Research InstituteUniversity of Sydney; Sydney Children's Hospitals Network; Women's and Children... and other collaboratorsActive, not recruitingAutosomal Recessive Disorder | X-Linked Genetic DiseasesAustralia
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Ludwig-Maximilians - University of MunichCompletedInclusion Body Myositis, Sporadic | Inclusion Body Myopathy, Autosomal-recessive | Inclusion Body Myopathy, Autosomal-dominant | Congenital Cataracts, Facial Dysmorphism, And NeuropathyGermany
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Origin BiosciencesCompletedMolybdenum Cofactor Deficiency (MoCD) | Rare Autosomal Recessive Disorder | Deficiency of Activity of Molybdenum-dependent Enzymes (Sulfite Oxidase [SOX], Xanthine Dehydrogenase, and Aldehyde Oxidase)United States
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National Medical Research Center for Therapy and...Moscow State University of Medicine and DentistryRecruitingMedication Adherence | Adherence, Medication | Treatment Adherence | Familial Hypercholesterolemia | Motivational Interviewing | Adherence, Patient | Treatment Adherence and Compliance | Patient Compliance | Adherence | Hypercholesterolemia, Familial | Patient Adherence | Hypercholesterolemia, Autosomal Dominant and other conditionsRussian Federation
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Juan PascualNational Institute of Neurological Disorders and Stroke (NINDS)CompletedGlucose Metabolism Disorders | Epilepsy | Glucose Transporter Type 1 Deficiency Syndrome | Glut1 Deficiency Syndrome 1, Autosomal Recessive | Glucose Transporter Protein Type 1 Deficiency Syndrome | Glucose Transport Defect | GLUT1DS1United States
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University of Texas Southwestern Medical CenterNational Institute of Neurological Disorders and Stroke (NINDS)Active, not recruitingGlucose Metabolism Disorders | Epilepsy | Glucose Transporter Type 1 Deficiency Syndrome | Glut1 Deficiency Syndrome 1, Autosomal Recessive | Glucose Transporter Protein Type 1 Deficiency Syndrome | Glucose Transport Defect | GLUT1DS1United States
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First Affiliated Hospital of Fujian Medical UniversityRecruitingSpinocerebellar Ataxia Type 3 | Multiple System Atrophy-cerebellar TypeChina
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University of California, Los AngelesUniversity of South Florida; University of RochesterWithdrawn
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Rabin Medical CenterInternational BFM Study Group; Israeli Society for Pediatric Hematology-OncologyRecruitingLymphoma | Leukemia | Ataxia TelangiectasiaIsrael
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CSL BehringCompletedCommon Variable Immunodeficiency | X-linked Agammaglobulinemia | Autosomal Recessive AgammaglobulinemiaGermany, United Kingdom, France, Italy, Poland, Romania, Spain, Sweden, Switzerland
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Krystal Biotech, Inc.Not yet recruitingAutosomal Recessive IchthyosisUnited States
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Alkeus Pharmaceuticals, Inc.RecruitingStargardt Disease | Stargardt Macular Degeneration | Stargardt Macular Dystrophy | Autosomal Recessive Stargardt Disease 1 (ABCA4-related)United States
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Alkeus Pharmaceuticals, Inc.Enrolling by invitationStargardt Disease | Stargardt Macular Degeneration | Stargardt Macular Dystrophy | Autosomal Recessive Stargardt Disease 1 (ABCA4-related)United States
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Medical University of ViennaUnknownPolycystic Kidney, Type 1 Autosomal Dominant Disease | Polycystic Kidney, Type 2 Autosomal Dominant DiseaseAustria
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Krystal Biotech, Inc.Active, not recruitingTGM-1 Related Autosomal Recessive Congenital IchthyosisUnited States
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Indiana UniversityHorizon Pharma Ireland, Ltd., Dublin IrelandCompleted
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Assistance Publique - Hôpitaux de ParisNot yet recruitingAutosomal Recessive Congenital Ichthyosis | Epidermolytic IchthyosisFrance
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Clinic for Special ChildrenRecruitingMyopathy | Myopathy; Hereditary | Myopathies, Nemaline | TNNT1-associated Myopathy | Infantile-onset Nemaline Rod Myopathy | Myopathy, Rod | Amish Nemaline Myopathy | Nemaline Myopathy 5 | NEM5 | Genetic Muscle Disease | Recessive Hereditary Disorder (Autosomal) | ANMUnited States
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University of Texas Southwestern Medical CenterRecruitingGlucose Metabolism Disorders | Epilepsy | Glucose Transporter Type 1 Deficiency Syndrome | Glut1 Deficiency Syndrome 1 | Glut1 Deficiency Syndrome 1, Autosomal Recessive | Glucose Transporter Protein Type 1 Deficiency Syndrome | Glucose Transport DefectUnited States
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University of Texas Southwestern Medical CenterWithdrawnFamilial HypercholesterolemiaUnited States
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Changlin MeiThe First Affiliated Hospital with Nanjing Medical University; The First Affiliated... and other collaboratorsCompletedPolycystic Kidney, Type 1 Autosomal Dominant DiseaseChina
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Regeneron PharmaceuticalsSanofiCompletedHypercholesterolemiaFrance, United States
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National Institute of Allergy and Infectious Diseases...Enrolling by invitationChronic Granulomatous Disease | p47 | Autosomal RecessiveUnited States
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Northwestern UniversityIcahn School of Medicine at Mount SinaiCompletedNetherton Syndrome | Ichthyosis | Lamellar Ichthyosis | Autosomal Recessive Congenital Ichthyosis | Congenital Ichthyosiform Erythroderma | Epidermolytic IchthyosisUnited States
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Kastle Therapeutics, LLCIonis Pharmaceuticals, Inc.CompletedMetabolic Diseases | Congenital Abnormalities | Infant, Newborn, Diseases | Genetic Diseases, Inborn | Dyslipidemias | Metabolism, Inborn Errors | Lipid Metabolism Disorders | Hypercholesterolemia | Hyperlipidemias | Hyperlipoproteinemias | Lipid Metabolism, Inborn Errors | Hyperlipoproteinemia Type II | Metabolic... and other conditionsUnited States
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Cairo UniversityRecruitingMedulloblastoma | AtaxiaEgypt
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Ain Shams UniversityCompletedGingival Recession Types One(RT1)Egypt
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Kastle Therapeutics, LLCIonis Pharmaceuticals, Inc.CompletedMetabolic Diseases | Congenital Abnormalities | Infant, Newborn, Diseases | Genetic Diseases, Inborn | Dyslipidemias | Metabolism, Inborn Errors | Lipid Metabolism Disorders | Hypercholesterolemia | Hyperlipidemias | Hyperlipoproteinemias | Lipid Metabolism, Inborn Errors | Hyperlipoproteinemia Type II | Metabolic... and other conditionsUnited States, Canada, Brazil, Taiwan, Singapore, South Africa, United Kingdom
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Kastle Therapeutics, LLCIonis Pharmaceuticals, Inc.CompletedMetabolic Diseases | Congenital Abnormalities | Infant, Newborn, Diseases | Genetic Diseases, Inborn | Dyslipidemias | Metabolism, Inborn Errors | Lipid Metabolism Disorders | Hypercholesterolemia | Hyperlipidemias | Hyperlipoproteinemias | Lipid Metabolism, Inborn Errors | Hyperlipoproteinemia Type II | Metabolic... and other conditionsUnited States, Taiwan, Brazil, Canada, South Africa, United Kingdom, Singapore
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Assistance Publique - Hôpitaux de ParisCompletedSpastic Paraplegia Type 5A, RecessiveFrance
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Inozyme PharmaEngage Health Inc.; GACI GlobalCompletedGeneralized Arterial Calcification in Infancy | Autosomal Recessive Hypophosphatemic Rickets Type 2United States
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NYU Langone HealthCompletedAnxiety Disorders | Familial Dysautonomia | Dysthymia | Paroxysmal Hypertension | Autosomal Recessive DiseaseUnited States
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Reata, a wholly owned subsidiary of BiogenCompletedFocal Segmental Glomerulosclerosis | IgA Nephropathy | Autosomal Dominant Polycystic Kidney | CKD Associated With Type 1 DiabetesUnited States
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Lisa Guay WoodfordNational Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)RecruitingNephronophthisis | Joubert Syndrome | Bardet Biedl Syndrome | Autosomal Recessive Polycystic Kidney Disease | Congenital Hepatic Fibrosis | Hepato/Renal Fibrocystic Disease | Meckel-Gruber Syndrome | Caroli Syndrome | Oro-Facial-Digital Syndrome Type I | Glomerulocystic Kidney DiseaseUnited States
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Dana-Farber Cancer InstituteActive, not recruitingFlat Epithelia Atypia | Intraductal Papilloma Without AtypiaUnited 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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H. Lee Moffitt Cancer Center and Research InstituteRecruitingLynch Syndrome | Pancreatic Ductal Adenocarcinoma | Chronic Pancreatitis | Pancreatic Cyst | Ataxia Telangiectasia | FAP | Peutz-Jeghers Syndrome | PALB2 Gene Mutation | BRCA Mutation | Fatty Pancreas | Genetic Pancreatic Cancer | Genetic Pancreatitis | Familial Atypical Multiple Mole-MelanomaUnited States
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Fred Hutchinson Cancer CenterNational Cancer Institute (NCI); National Heart, Lung, and Blood Institute...CompletedSevere Combined Immunodeficiency | Adenosine Deaminase Deficiency | Immune System Disorder | Autosomal Recessive Disorder | Purine-Nucleoside Phosphorylase Deficiency | Severe Combined Immunodeficiency With Absence of T and B Cells | X-Linked Severe Combined ImmunodeficiencyUnited States
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Assistance Publique - Hôpitaux de ParisAventis PharmaceuticalsCompletedEHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT | CHROMOSOME 2q31.2 DELETION SYNDROME
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Hospices Civils de LyonCompletedHighlights a New Clinical Sign Which Point Out a Meniscus Posterior Luxation Because of a MCA-type DLMFrance
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University of ArkansasWithdrawnPancreatic Neoplasms | Colorectal Neoplasms, Hereditary Nonpolyposis | BRCA1 Gene Mutation | BRCA2 Gene Mutation | Hereditary Pancreatitis | Ataxia Telangiectasia | Peutz-Jegher's Syndrome | Familial Atypical Mole-Malignant Melanoma SyndromeUnited States
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Assistance Publique - Hôpitaux de ParisInstitute of Cardiometabolism and Nutrition, FranceCompletedFamilial Hypercholesterolemia - HeterozygousFrance
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Boston Children's HospitalAmerican Academy of Sleep MedicineRecruitingIdiopathic Hypersomnia | Narcolepsy Type 1 | Narcolepsy Type 2United States
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TakedaRecruitingNarcolepsy Type 1 | Narcolepsy Type 2Spain, Germany, United States, Italy, Netherlands, Japan, France, Norway, Australia, Finland, Switzerland, Sweden
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Children's Cancer Hospital Egypt 57357CompletedMedulloblastoma, Childhood | Childhood CancerEgypt
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TakedaTerminatedNarcolepsy Type 1 (NT1) | Narcolepsy Type 2 (NT2)China, United States, Korea, Republic of, France, Italy, Finland, Spain, Czechia, Canada, Japan, Hungary, Netherlands
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Xiaofan ZhuAvailableFanconi Anemia | Autosomal or Sex Linked Recessive Genetic Disease | Bone Marrow Hematopoiesis Failure, Multiple Congenital Abnormalities, and Susceptibility to Neoplastic Diseases. | Hematopoiesis Maintainance.China
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I.M. Sechenov First Moscow State Medical UniversityCompleted
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Hospices Civils de LyonCompleted