Clinical Trials on Autosomal Recessive Metabolic Cerebellar Ataxia
Total 412 results
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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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Sheba Medical CenterEnrolling by invitationParkinson Disease | Cerebellar Ataxia | Dystonia | Multiple System Atrophy | Corticobasal Degeneration | Progressive Supranuclear Palsy | Essential Tremor | Dementia With Lewy Bodies | Normal Pressure HydrocephalusIsrael
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Indiana UniversityHorizon Pharma Ireland, Ltd., Dublin IrelandCompleted
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Calcilytix Therapeutics, Inc., a BridgeBio companyRecruitingAutosomal Dominant HypocalcemiaUnited States, France, Denmark, Australia, Japan, Belgium, Canada, Italy, Netherlands, United Kingdom, Portugal, Finland, Germany
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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 CologneCompleted
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Krystal Biotech, Inc.Active, not recruitingTGM-1 Related Autosomal Recessive Congenital IchthyosisUnited States
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University of AarhusUnknownPseudohypoparathyroidism | Idiopathic Hypoparathyroidism | Autosomal Dominant HypocalcaemiaDenmark
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Assistance Publique - Hôpitaux de ParisNot yet recruitingAutosomal Recessive Congenital Ichthyosis | Epidermolytic IchthyosisFrance
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Inozyme PharmaRecruitingGeneralized Arterial Calcification of Infancy | Autosomal Recessive Hypophosphatemic Rickets | Ectonucleotide Pyrophosphatase/phosphodiesterase1 DeficiencyUnited States, United Kingdom
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Inozyme PharmaActive, not recruitingGeneralized Arterial Calcification of Infancy | Autosomal Recessive Hypophosphatemic Rickets | Ectonucleotide Pyrophosphatase/phosphodiesterase1 DeficiencyUnited States, Canada, Germany, France, United Kingdom
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Inozyme PharmaRecruitingGeneralized Arterial Calcification of Infancy | Autosomal Recessive Hypophosphatemic Rickets | Ectonucleotide Pyrophosphatase/Phosphodiesterase1 DeficiencyUnited States, United Kingdom, Canada
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Calcilytix Therapeutics, Inc., a BridgeBio companyRecruitingAutosomal Dominant Hypocalcemia (ADH)United States, Australia, United Kingdom, Denmark, Italy, France, Japan, Taiwan, Canada, Czechia, Netherlands
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Mayo ClinicHopital du Sacre-Coeur de MontrealRecruitingAutosomal Dominant Polycystic Kidney Disease | Nephrogenic Diabetes Insipidus | Acquired Nephrogenic Diabetes Insipidus | Congenital Nephrogenic Diabetes InsipidusUnited States
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Assistance Publique - Hôpitaux de ParisInstitute of Cardiometabolism and Nutrition, FranceCompletedFamilial Hypercholesterolemia - HeterozygousFrance
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Indiana UniversityCompletedAutosomal Dominant Hypophosphatemic RicketsUnited States
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Henri Mondor University HospitalRecruitingDiagnoses Disease | Parkinson | Rest Tremor | Cerebellar Tumor | Movement; Abnormal, InvoluntaryFrance
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University College, LondonWashington University School of Medicine; University of Washington; Alzheimer... and other collaboratorsNot yet recruitingAlzheimer Disease | Autosomal Dominant Alzheimer Disease Due to Mutation of Presenilin 1 (Disorder) | Autosomal Dominant Alzheimer Disease Due to Mutation of Presenilin 2 (Disorder) | Autosomal Dominant Alzheimer Disease Due to Mutation of Amyloid Precursor Protein (Disorder)
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University Hospital, RouenCompletedAutosomal Dominant Cases of Alzheimer 's DiseaseFrance
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Wake Forest University Health SciencesCompleted
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PYC TherapeuticsRecruitingOptic Atrophies, Hereditary | Autosomal Dominant Optic Atrophy | Optic Atrophy, Autosomal Dominant | Kjer Optic AtrophyAustralia
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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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National Institute of Neurological Disorders and...CompletedHealthy | Parkinson's Disease | Dementia | Cerebellar DiseaseUnited States
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St. Jude Children's Research HospitalNational Institute of Diabetes and Digestive and Kidney Diseases (NIDDK); Regional...Completed
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National Institute of Allergy and Infectious Diseases...Enrolling by invitationChronic Granulomatous Disease | p47 | Autosomal RecessiveUnited States
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University of Colorado, DenverMayo Clinic; National Institute of Diabetes and Digestive and Kidney Diseases...RecruitingOverweight and Obesity | Autosomal Dominant Polycystic KidneyUnited States
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Westfälische Wilhelms-Universität MünsterICON plcUnknownPseudoxanthoma Elasticum | Generalized Arterial Calcification in Infancy | Autosomal Recessive Hypophosphatemic RicketsGermany
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National Human Genome Research Institute (NHGRI)CompletedGeneralized Arterial Calcification of Infancy | Autosomal Recessive Hypophosphatemic Rickets Type2United 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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National Institute of Neurological Disorders and...Completed
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University of Rouen NormandieFrench Institute of Sport (INSEP); French swimming federation (FFN); French federation...Enrolling by invitationOxygen Consumption | Swimming | Coordination Lack | Lactic Acid Blood IncreasedFrance
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Azienda Ospedaliero-Universitaria Consorziale Policlinico...Institute of Biomembranes, Bioenergetics and Molecular Biotechnologies; Istituti... and other collaboratorsCompletedAutosomal Dominant Polycystic Kidney Disease (ADPKD) | IgA Nephropathy (IgAN) | Diabetic Kidney Disease (DKD) | Advanced-Chronic Kidney Disease (CKD)Italy
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Glostrup University Hospital, CopenhagenUnknownOptic Atrophy, Autosomal DominantDenmark
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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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University of CopenhagenThe Danish Dairy Research Foundation, Denmark; Nordea-Fonden, Denmark; LEGO Charity... and other collaboratorsActive, not recruitingObesity | Pregnancy | Gestational Age and Weight Conditions | Maternal Care for Excessive Fetal Growth | Metabolic DisordersDenmark
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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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University of Colorado, DenverPKD FoundationCompletedPolycystic Kidney, Autosomal DominantUnited States
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Inozyme PharmaNot yet recruitingGeneralized Arterial Calcification of Infancy | Autosomal Recessive Hypophosphatemic Rickets | Ectonucleotide Pyrophosphatase/phosphodiesterase1 Deficiency | ATP-Binding Cassette Subfamily C Member 6 Deficiency
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Henri Mondor University HospitalActive, not recruitingParkinson Disease | Movement Disorders | Diagnoses Disease | Hydrocephalus | Gait Ataxia | Walking, DifficultyFrance
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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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METAFORA biosystemsAssistance Publique - Hôpitaux de Paris; European Commission; Ministry for Health... and other collaboratorsCompletedMovement Disorders | Intellectual Disability | Seizures | Ataxia | Glut1 Deficiency Syndrome | De Vivo DiseaseFrance
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NYU Langone HealthCompletedAnxiety Disorders | Familial Dysautonomia | Dysthymia | Paroxysmal Hypertension | Autosomal Recessive DiseaseUnited States
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University of Colorado, DenverNational Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)CompletedPolycystic Kidney, Autosomal DominantUnited States
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Lisa M. 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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Okuvision GmbHCompletedPrimary Open Angle Glaucoma | Retinal Vein Occlusion | Retinitis Pigmentosa | Retinal Artery Occlusion | Dry Age Related Macular Degeneration | Hereditary Macular Degeneration | Macula Off | Treated Retina Detachment | Non-Arthritic-Anterior-Ischemic Optic-Neuropathy | Hereditary Autosomal Dominant Optic... and other conditions
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Stanford UniversityNational Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)CompletedObesity | Overweight | Excessive Weight GainUnited States
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Burke Medical Research InstituteActive, not recruitingStroke | Multiple Sclerosis | Cerebral Palsy | Parkinson Disease | Spinal Cord Injuries | Neurologic Disorder | Hemiplegia | Hemiparesis | Friedreich Ataxia | Trauma, Brain | Transverse MyelitisUnited States
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National Taiwan University HospitalRecruitingStroke | Magnetic Resonance Imaging | Fabry Disease | Cerebral Small Vessel Diseases | Cadasil | HTRA1-Related Autosomal Dominant Cerebral Angiopathy | COL4A1-Related Brain Small Vessel Disease With Haemorrhage | Next-generation SequencingTaiwan
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Université de SherbrookeFonds de la Recherche en Santé du Québec; Diabetes QuébecCompletedGestational Diabetes | Excessive Weight Gain During PregnancyCanada
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University of AarhusAarhus University HospitalCompletedInsulin Resistance | Acromegaly | Excessive Growth Hormone SecretionDenmark