Clinical Trials on Genetic Diseases, Inborn
Total 380172 results
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QOL Medical, LLCWithdrawn
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Aga Khan University Hospital, PakistanCompletedInborn Errors of MetabolismPakistan
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Alexion Pharmaceuticals, Inc.RecruitingHypophosphatasiaAustralia, United States, Japan, Germany, Turkey, Italy, India, France, United Kingdom, Argentina, Canada
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Alexion Pharmaceuticals, Inc.Not yet recruiting
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AlexionRecruiting
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Children's Mercy Hospital Kansas CityRecruiting
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Sheffield Teaching Hospitals NHS Foundation TrustNational Institute for Health Research, United Kingdom; Alexion Pharmaceuticals...Completed
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Sheffield Teaching Hospitals NHS Foundation TrustUniversity of SheffieldActive, not recruiting
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National Institute of Allergy and Infectious Diseases...RecruitingGranuloma | Granulomatous Disease, Chronic | Leukocyte Disease | Genetic Disease, X-Linked | Genetic Disease, InbornUnited States
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University of FloridaCompleted
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Eunice Kennedy Shriver National Institute of Child...Completed
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Ultragenyx Pharmaceutical IncActive, not recruitingOrnithine Transcarbamylase (OTC) DeficiencyCanada, United States, France, Spain, United Kingdom
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University of British ColumbiaCanadian Institutes of Health Research (CIHR); Saudi Arabian Cultural Bureau...Unknown
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National Institute of Allergy and Infectious Diseases...Recruiting
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Holland Bloorview Kids Rehabilitation HospitalThe Hospital for Sick ChildrenEnrolling by invitationRare Diseases | Genetic Disease | KCNC1 Related DisorderCanada
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Eloxx Pharmaceuticals, Inc.TerminatedGenetic Disease | Cystinosis | Nonsense MutationCanada
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Alexion Pharmaceuticals, Inc.RecruitingHypophosphatasiaItaly, Spain, Israel, Korea, Republic of, Belgium, Germany, United States, China, France, Taiwan, Austria, Japan, India, Australia, Argentina, Poland, Turkey, Brazil, Canada, Thailand, United Kingdom, Slovakia, Czechia
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Alexion Pharmaceuticals, Inc.RecruitingHypophosphatasiaIsrael, Korea, Republic of, Taiwan, Sweden, Germany, Italy, Turkey, China, Poland, United States, France, Australia, Thailand, United Kingdom, Mexico, Vietnam, Argentina, Belgium, Brazil, Canada, Spain
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Alexion Pharmaceuticals, Inc.Completed
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AM-PharmaCompleted
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Sheffield Teaching Hospitals NHS Foundation TrustCompleted
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Wuerzburg University HospitalCompleted
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Shaare Zedek Medical CenterUnknownInfertility | Genetic DiseasesIsrael
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Sciotec Diagnostic Technologies GmbHNot yet recruitingFructose IntoleranceAustria
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Augusta UniversityUniversity of Iowa; Teikyo UniversityRecruitingFructose IntoleranceUnited States
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Augusta UniversityUnknownFructose IntoleranceUnited States
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Hospital Clínico Universitario de ValladolidCompletedRadiation Exposure | Cytogenetic AbnormalitySpain
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Universitaire Ziekenhuizen KU LeuvenUnknownLipid Metabolism, Inborn ErrorsBelgium
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University of Wisconsin, MadisonUniversity of Wisconsin Center for Human Genomics and Precision MedicineRecruitingRare Diseases | Genetic Disease | Undiagnosed DiseaseUnited States
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Duke UniversityRecruitingHypophosphatasiaUnited States
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Ultragenyx Pharmaceutical IncNovartis; Mereo BioPharmaCompleted
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Dr. Lothar SeefriedAlexion PharmaceuticalsCompleted
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CENTOGENE GmbH RostockAlexion PharmaceuticalsCompleted
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Alexion PharmaceuticalsCompletedHypophosphatasiaUnited States, Germany
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Translational Research Center for Medical Innovation...Osaka University Graduate School of MedicineCompleted
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Ultragenyx Pharmaceutical IncCompletedGSD1Netherlands, United States, Canada, Spain
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Andrea GropmanNational Center for Research Resources (NCRR); Rare Diseases Clinical Research... and other collaboratorsCompletedBrain Diseases, Metabolic, Inborn | Ornithine Transcarbamylase Deficiency | Urea Cycle DisorderUnited States
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Mayo ClinicNational Institute of Neurological Disorders and Stroke (NINDS)Enrolling by invitationCongenital Disorders of GlycosylationUnited States
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Alexion PharmaceuticalsApproved for marketingHypophosphatasiaUnited States, France
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Alexion PharmaceuticalsCompletedHypophosphatasiaUnited States, Spain, Australia, United Kingdom, Italy, France, Canada, Germany, Japan, Russian Federation, Saudi Arabia, Turkey
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Andrea GropmanChildren's National Research InstituteCompletedOrnithine Transcarbamylase Deficiency
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Alexion Pharmaceuticals, Inc.Enrolling by invitationHypophosphatasia (HPP)United States, Italy, Russian Federation, Spain, United Kingdom, Germany, Canada, France, Saudi Arabia, Poland, Australia
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Origin BiosciencesCompletedMolybdenum Cofactor DeficiencyUnited States, Australia, United Kingdom, Germany, Netherlands, Turkey
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Michigan State UniversityRecruitingHereditary DiseasesUnited States
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Icahn School of Medicine at Mount SinaiAlbert Einstein College of Medicine; National Institute on Minority Health... and other collaboratorsCompletedGenetic Diseases, Inborn | Genetic Predisposition to DiseaseUnited States
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National Human Genome Research Institute (NHGRI)CompletedPregnancy | Inborn Errors of Metabolism | AcidemiasUnited States
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Institute of Liver and Biliary Sciences, IndiaRecruitingGlycogen Storage DiseasesIndia
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Regeneron PharmaceuticalsSanofiCompletedHypersensitivity, Immediate | Dermatitis, Atopic | Moderate-to-Severe Atopic Dermatitis | Dermatitis, Dermatitis Atopic | Eczema, Skin Diseases, Skin | Diseases Genetic, Genetic | Diseases Inborn, Skin | Disease, Eczematous Skin | Hypersensitivity, Immune System DiseasesUnited States, Canada
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University of FloridaDiabetes SentryTerminatedClinical Evaluation of a Non-Invasive Hypoglycemia Detector in a Glycogen Storage Disease PopulationGlycogen Storage DiseaseUnited States