Clinical Trials on Purine-Pyrimidine Metabolism, Inborn Errors
Total 4452 results
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Maimonides Medical CenterFoundation for Prader-Willi ResearchRecruitingBody Weight | Hyperphagia | Prader-Willi Syndrome | Mood | Behavior | Excessive Daytime SleepinessUnited States
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Maimonides Medical CenterRecruitingAggression | Behavioral Symptoms | Pathologic Processes | Nervous System Diseases | Obesity | Neurologic Manifestations | Neurobehavioral Manifestations | Congenital Abnormalities | Overnutrition | Nutrition Disorders | Genetic Diseases, Inborn | Intellectual Disability | Self-Injurious Behavior | Abnormalities, Multiple and other conditionsUnited States
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Bahçeşehir UniversityNot yet recruitingDuchenne Muscular Dystrophy | Spinal Muscular Atrophy | Healthy Individuals
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Christian BaumannETH ZurichRecruitingParkinson Disease | Mild Cognitive Impairment | Huntington DiseaseSwitzerland
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Scholar Rock, Inc.Active, not recruitingNeuromuscular Diseases | Neuromuscular Manifestations | Atrophy | Muscular Atrophy | Spinal Muscular Atrophy | Muscular Atrophy, Spinal | Spinal Muscular Atrophy Type 3 | SMA | Spinal Muscular Atrophy Type 2 | Anti-myostatinUnited States, Germany, Belgium, Spain, United Kingdom, Netherlands, France, Italy, Poland
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University Hospital, MontpellierTerminatedChronic Spotaneous Urticaria, Idiopathic Non Histaminergic Angioderma, Hereditary Angioedema With C1 Inhibitor DeficiencyFrance
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Nationwide Children's HospitalNovartisActive, not recruitingSpinal Muscular Atrophy Type II | Spinal Muscular Atrophy Type IUnited States
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Assistance Publique - Hôpitaux de ParisCompletedInfantile Spinal Muscular Atrophy of Type 2 or 3France
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Children's Hospital Medical Center, CincinnatiNational Center for Advancing Translational Sciences (NCATS)Completed
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University of New MexicoCompletedRetinitis Pigmentosa | Age Related Macular Degeneration | Congenital Stationary Night Blindness | ColorblindnessUnited States
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Vanderbilt University Medical CenterRecruitingMultiple System Atrophy | Pure Autonomic Failure | Autonomic Failure | Orthostatic; Hypotension, Neurogenic | Orthostatic; Hypotension, ParkinsonismUnited States
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Vanderbilt University Medical CenterNational Heart, Lung, and Blood Institute (NHLBI)RecruitingParkinson Disease | Multiple System Atrophy | Neurogenic Orthostatic Hypotension | Pure Autonomic Failure | Autonomic FailureUnited States
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Vanderbilt University Medical CenterNational Institute of Neurological Disorders and Stroke (NINDS)CompletedParkinson's Disease | Multiple System Atrophy | Orthostatic Hypotension | Pure Autonomic FailureUnited States
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VA Office of Research and DevelopmentNot yet recruitingAmyotrophic Lateral Sclerosis | Muscular Dystrophy | Spinal Cord Injury | Brain Stem Infarctions | Locked-in SyndromeUnited States
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Massachusetts General HospitalRecruitingLynch Syndrome | Genetic Predisposition to Disease | Prostate Cancer | BRCA1 Mutation | BRCA2 Mutation | Prostatic Neoplasm | ATM Gene Mutation | MMR MutationUnited States
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Randy KardonRecruitingLeber Hereditary Optic Neuropathy | Ischemic Optic Neuropathy | Hemianopia | Branch Retinal Artery Occlusion | Acute Zonal Occult Outer RetinopathyUnited States
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University Health Network, TorontoSunnybrook Health Sciences Centre; University of Toronto; Hamilton Health Sciences... and other collaboratorsActive, not recruitingUniversal Screening for Lynch Syndrome in Women With Endometrial and Non-Serous Ovarian Cancer (LS2)Colorectal Neoplasms | Ovarian Neoplasms | Lynch Syndrome | Endometrial NeoplasmsCanada
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French National Agency for Research on AIDS and...Celgene CorporationTerminatedHIV Infection Associated Kaposi DiseaseFrance
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Masonic Cancer Center, University of MinnesotaRecruitingMyelodysplastic Syndromes | Fanconi Anemia | Dyskeratosis Congenita | Severe Aplastic Anemia | Bone Marrow Failure | T Cell Receptor Alpha/Beta Depletion | Telomere Biology DisorderUnited States
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University of South FloridaUniversity of Miami; National Institutes of Health (NIH); University of KansasCompletedAmyotrophic Lateral Sclerosis | Primary Lateral Sclerosis | Progressive Muscular Atrophy | Hereditary Spastic Paraplegia
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Skulpt, Inc.CompletedMultiple Sclerosis | Charcot-Marie-Tooth Disease | Motor Neuron Disease | Amyotrophic Lateral SclerosisUnited States
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Hoffmann-La RocheAssociation Française contre les Myopathies (AFM), ParisCompletedSpinal Muscular Atrophy Type II | Spinal Muscular Atrophy Type III Non AmbulantGermany, Italy, France, Belgium, Poland, Netherlands, United Kingdom
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Zhongshan Ophthalmic Center, Sun Yat-sen UniversityNot yet recruitingGlaucoma | Diabetic Retinopathy | Age-related Macular Degeneration | Retinitis PigmentosaChina
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Hoffmann-La RocheCompletedHaemophilia A | Moderate Hereditary Factor VIII Deficiency Disease Without Inhibitor | Severe Hereditary Factor VIII Deficiency Disease Without InhibitorItaly
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Eunice Kennedy Shriver National Institute of Child...National Human Genome Research Institute (NHGRI)Completed
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University Hospital, BordeauxFondation Syndrome de Rubinstein-TaybiCompletedRubinstein-Taybi SyndromeFrance
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Cedars-Sinai Medical CenterCompletedParkinson Disease | Dementia | Huntington Disease | Alzheimer's DiseaseUnited States
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St. Joseph's Hospital and Medical Center, PhoenixTexas Tech UniversityNot yet recruitingCognitive Dysfunction | Neurodegenerative Disease, Hereditary | Cognitive Impairment, Mild | Amyloid Plaque | Inflammation, Brain
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Merve KurtRecruitingDuchenne Muscular Dystrophy | Virtual Reality | Spinal Muscular Atrophy | Neuromuscular Disease | BiofeedbackTurkey
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The Hospital for Sick ChildrenRecruitingPrader-Willi Syndrome | Sleep Apnea, CentralCanada
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Novartis Gene TherapiesActive, not recruitingSMA | Spinal Muscular Atrophy Type II | Spinal Muscular Atrophy Type I | Spinal Muscular Atrophy Type IIIUnited States, Belgium, France, Japan, United Kingdom, Italy, Taiwan, Australia, Canada
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Columbia UniversityMuscular Dystrophy Association; Stevens Institute of TechnologyCompletedDuchenne Muscular Dystrophy | Spinal Muscular Atrophy Type 3United States
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T. van der PollZonMw: The Netherlands Organisation for Health Research and Development; Prothya...Terminated
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Novo Nordisk A/SCompletedHealthy | Prader-Willi Syndrome | Genetic Disorder | Growth Disorder | Idiopathic Short StatureUnited States
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Daniel ClaassenRecruitingParkinson Disease | Multiple System Atrophy | Pure Autonomic Failure | Dementia With Lewy Bodies | Autonomic FailureUnited States
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CND Life SciencesCompletedParkinson Disease | Multiple System Atrophy | Pure Autonomic Failure | Dementia With Lewy BodiesUnited States
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Centre Hospitalier National d'Ophtalmologie des...RecruitingHypertension | Retinal Degeneration | Diabetic Retinopathy | Macular Edema | Retinitis Pigmentosa | Macular Dystrophy | Maculopathy, Age Related | Occlusion Retinal VeinFrance
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Istituto Ortopedico RizzoliCompletedOsteogenesis Imperfecta | Multiple Osteochondroma | Ollier Disease | Maffucci SyndromeItaly
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Enzyvant Therapeutics GmBHNational Institute of Allergy and Infectious Diseases (NIAID); Eunice Kennedy... and other collaboratorsCompletedDiGeorge Syndrome | DiGeorge Anomaly | Complete DiGeorge Anomaly | Complete DiGeorge SyndromeUnited States
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Children's Hospital Medical Center, CincinnatiCompletedDuchenne Muscular Dystrophy | Spinal Muscular Atrophy | Congenital Muscular Dystrophy
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Baylor College of MedicineUniversity of California, San Diego; University of Alabama at Birmingham; Boston... and other collaboratorsCompletedPrader-Willi Syndrome | Rett Syndrome | Angelman Syndrome | Sleep ProblemsUnited States
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University Hospital, ToulouseRecruitingEpilepsy | Prader-Willi Syndrome | Angelman Syndrome | Smith-Magenis Syndrome | X Fragile SyndromeFrance
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Assistance Publique - Hôpitaux de ParisNot yet recruiting
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Centre Hospitalier National d'Ophtalmologie des...RecruitingStroke | Glaucoma | Hypertension | Diabetes | Retinal Degeneration | Macular Edema | Retinitis Pigmentosa | Trauma | Dry Eye | Keratoconus | Retinal Detachment | Corneal Dystrophy | Vascular Inflammation | Macular Dystrophy | Maculopathy, Age RelatedFrance
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Gary M Brittenham, MDActive, not recruitingRespiratory Tract Infections | Respiratory Tract Diseases | Respiration Disorders | Lung Diseases | Nutrition Disorders | Vitamin D Deficiency | Asthma | Sickle Cell Disease | Anemia, Sickle Cell | Anemia, Hemolytic, Congenital | Acute Chest Syndrome | Deficiency Diseases VitaminUnited States
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Universitaire Ziekenhuizen KU LeuvenCompletedDiabetes | Allergy | Chronic Kidney Disease | Cystic Fibrosis | Heart DiseaseBelgium
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University of FloridaWithdrawnDiabetes Mellitus | Hematologic Diseases | Cancer | Chronic Disease | Cystic Fibrosis | Narrative Medicine | Terminal Illness | Rheumatologic Disorder | Oncologic DisordersUnited States
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Leigh R. Hochberg, MD, PhD.National Institute of Neurological Disorders and Stroke (NINDS); US Department... and other collaboratorsRecruitingAmyotrophic Lateral Sclerosis | Muscular Dystrophy | Spinal Cord Injuries | Tetraplegia | Brain Stem Infarctions | Locked in SyndromeUnited States
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National Institute of Allergy and Infectious Diseases...RecruitingChronic Granulomatous Disease (CGD) | X-Linked Severe Combined Immune Deficiency (XSCID) | Leukocyte Adhesion Deficiency 1 (LAD) | Graft Versus Host Disease (cGvHD)United States
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East Kent Hospitals University NHS Foundation TrustKU Leuven; University of Kent; Sussex Community NHS Foundation Trust; l'Institut...CompletedStroke | Multiple Sclerosis | Craniocerebral Trauma | Cystic Fibrosis | Guillain-Barre Syndrome | Motor Neurone DiseaseUnited Kingdom