Clinical Trials on Acid Maltase Deficiency Disease
Total 9572 results
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National Institute of Neurological Disorders and...CompletedSuccinic Semialdehyde | Dehydrogenase Deficiency | DiseasesUnited States
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University of California, Los AngelesGreat Ormond Street Hospital for Children NHS Foundation TrustEnrolling by invitationAdenosine Deaminase Deficiency | Severe Combined Immunodeficiency (SCID)United States, United Kingdom
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Ultragenyx Pharmaceutical IncRecruitingOTC DeficiencyUnited States, Portugal, Australia, Italy, Spain, United Kingdom, Japan, Canada, Germany, France, Argentina, Netherlands, Brazil
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University College, LondonRecruitingOrnithine Transcarbamylase DeficiencyUnited Kingdom
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Arcturus Therapeutics, Inc.Active, not recruitingOrnithine Transcarbamylase DeficiencyUnited States
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National Human Genome Research Institute (NHGRI)TerminatedCitrullinemia | Argininosuccinic Aciduria | Hyperargininemia | Ornithine Carbamoyltransferase Deficiency | Carbamoyl-Phosphate Synthase I Deficiency | N-Acetylglutamate Synthase DeficiencyUnited States
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CENTOGENE GmbH RostockWithdrawnMetabolic Disorders | Tyrosinosis | Hepatorenal Tyrosinemia | Fumarylacetoacetase Deficiency | Fah DeficiencyGermany, Sri Lanka, India
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Reneo Pharma LtdCompletedFatty Acid Oxidation DisorderUnited States, Spain, France, Austria, Poland, Belgium, Czechia, Denmark, Hungary, Italy, United Kingdom
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Dr. Schär AG / SPACompletedFatty Acid Oxidation DisorderRussian Federation
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Lindenwood UniversityCompletedAmino Acid AbsorptionUnited States
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Second Affiliated Hospital of Nanchang UniversityPeking University First HospitalUnknownHypertension | HyperhomocysteinemiaChina
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Shenzhen Ausa Pharmed Co.,LtdPeking University First Hospital; China Medical University, China; Fudan University and other collaboratorsUnknownEssential HypertensionChina
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Radboud University Medical CenterCompletedMild HyperhomocysteinemiaNetherlands
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Medical University of ViennaCompletedHyperemesis Gravidarum | Nausea Gravidarum | Vitamin C DeficiencyAustria
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Reneo Pharma LtdCompletedFatty Acid Oxidation DisordersUnited States, France, Spain
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Radboud University Medical CenterCompletedEpilepsy | Ketogenic Dieting | Lactic Acid Blood Increased | GLUT1DS1 | GLUT1 Deficiency Syndrome | GLUT1DS2Netherlands
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Fundación Española de Hematología y HemoterapíaRecruitingGaucher Disease | Acid SphingoMyelinase DeficiencySpain
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Ultragenyx Pharmaceutical IncTerminatedOrnithine Transcarbamylase DeficiencyUnited States
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Aplos MedicalNational Institute of Diabetes and Digestive and Kidney Diseases (NIDDK); National...Recruiting
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Jasper Therapeutics, Inc.Recruiting
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Alexion PharmaceuticalsCompletedLysosomal Acid Lipase DeficiencySpain, Germany, Italy, United States, Croatia, Canada, Russian Federation, Denmark, United Kingdom, Belgium, Mexico, Australia, Netherlands, Brazil, Turkey
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Alexion PharmaceuticalsTerminated
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Alexion PharmaceuticalsNo longer availableLysosomal Acid Lipase Deficiency
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Alexion PharmaceuticalsCompletedLysosomal Acid Lipase DeficiencyFrance, Poland, United Kingdom, Spain, Mexico, Turkey, Japan, Australia, Russian Federation, United States, Germany, Italy, Czechia, Argentina, Croatia
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Massachusetts General HospitalAlexion PharmaceuticalsUnknownCholesterol Ester Storage Disease | Lysosomal Acid Lipase DeficiencyUnited States
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Michel BurnierCompleted
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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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Alexion PharmaceuticalsTerminatedLysosomal Acid Lipase DeficiencyUnited States
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Francisco Javier Martínez NogueraCompletedInflammatory Response | Oxygen Deficiency | Oxidative Stress | Acid-Base Imbalance | Metabolic Disturbance | Muscle Loss | Power | Electrolyte Disturbance | Change, Body Weight | Changes FattySpain
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Andrea GropmanChildren's National Research InstituteCompletedOrnithine Transcarbamylase Deficiency
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Centre Hospitalier Universitaire DijonCentre Hospitalier Universitaire Saint PierreCompletedInfant, Premature, Diseases | Fatty Acid DeficiencyFrance
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BioMarin PharmaceuticalQuintiles, Inc.CompletedTetrahydrobiopterin DeficiencyChina
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Ono Pharmaceutical Co. LtdCompleted
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Mirum Pharmaceuticals, Inc.CompletedInborn Errors of Bile Acid SynthesisUnited States
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Fondazione IRCCS Ca' Granda, Ospedale Maggiore...UnknownAcute Respiratory Variations of Acid-base EquilibriumItaly
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Dr. Loges & Co. GmbHBioTeSys GmbHCompletedEndothelial Dysfunction | Hyperhomocysteinemia | Hypertension Grade I, Subgroup "Borderline" (WHO)Germany
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Pamlab, Inc.Clionsky Neuro Systems Inc.UnknownMild Cognitive ImpairmentUnited States
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University Medical Center GroningenUMC Utrecht; University of Oxford; Academisch Medisch Centrum - Universiteit... and other collaboratorsCompletedVLCAD Deficiency | Fatty Acid Oxidation DefectsNetherlands
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Ultragenyx Pharmaceutical IncCompletedLong-chain Fatty Acid Oxidation Disorders (LC-FAOD)United States
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Rush University Medical CenterActive, not recruitingBreast Cancer | Ovarian Cancer | Folic Acid DeficiencyUnited States
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Fondazione Policlinico Universitario Agostino Gemelli...Massimo Antonelli; Cristina Dominedò; Marco Rossi; Rossano Festa; Nicoletta Filetici and other collaboratorsCompletedAcid-Base Imbalance | SIDItaly
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Enzyvant Therapeutics GmBHCompletedFarber Disease | Farber's Disease | Farber Lipogranulomatosis | Acid Ceramidase Deficiency | Ceramidase Deficiency | N-Laurylsphingosine Deacylase Deficiency | ASAH1 MutationUnited States, Egypt, Canada, Italy, Turkey, Argentina, Germany, India, Sweden
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Fondazione SISA (Societa Italiana per lo Studio...Recruiting
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Lee's Pharmaceutical LimitedNot yet recruiting5-aminolevulinic Acid | Fluorescence-guided ResectionChina
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metaX Institut fuer Diatetik GmbHBirmingham Children's HospitalCompletedPhenylketonurias | Hyperphenylalaninaemia | Tetrahydrobiopterin DeficiencyUnited Kingdom
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Homology Medicines, IncEnrolling by invitationPhenylketonuria | PAH DeficiencyUnited States
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Purdue UniversityCompletedTaste Sensitivity | Fatty Acid TypeUnited States
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LogicBio Therapeutics, IncAlexion Pharmaceuticals, Inc.TerminatedMethylmalonic AcidemiaUnited States