- ICH GCP
- US Clinical Trials Registry
- Search trials
Clinical Trials on Lysosomal Acid Lipase Deficiency
Total 340 results
-
Masonic Cancer Center, University of MinnesotaCompletedMucopolysaccharidosis I | Mucopolysaccharidosis VI | Mannosidosis | Mucolipidosis Type II (I-cell Disease)United States
-
Shenzhen Geno-Immune Medical InstituteUnknownAdenosine DeAminase Severe Combined ImmunoDeficiency (ADA-SCID)China
-
Hospital Universitario Dr. Jose E. GonzalezLaboratorios Valdecasas S.A.CompletedDiabetic Nephropathies | HyperhomocysteinemiaMexico
-
Genzyme, a Sanofi CompanyCompletedSphingomyelin LipidosisUnited States, Argentina, Australia, Belgium, Brazil, Bulgaria, Chile, France, Germany, Italy, Japan, Netherlands, Portugal, Spain, Tunisia, Turkey, United Kingdom
-
Genzyme, a Sanofi CompanyCompletedSphingomyelin LipidosisUnited States, Belgium, Brazil, France, Germany, Italy, United Kingdom
-
Aeglea BiotherapeuticsCompletedArginase I Deficiency | HyperargininemiaUnited States, Canada, United Kingdom, Portugal
-
Aeglea BiotherapeuticsCompletedArginase I Deficiency | HyperargininemiaUnited States, Canada, United Kingdom, Portugal
-
BioMarin PharmaceuticalCompletedTetrahydrobiopterin Deficiencies | Hyperphenylalaninemia, Non-PhenylketonuricGermany, United States
-
Baylor College of MedicineCompletedCitrullinemiaUnited States
-
RTI InternationalEunice Kennedy Shriver National Institute of Child Health and Human Development... and other collaboratorsEnrolling by invitationPrimary Hyperoxaluria Type 3 | Diabetes Mellitus | Hemophilia A | Hemophilia B | Hereditary Fructose Intolerance | Cystic Fibrosis | Factor VII Deficiency | Phenylketonurias | Sickle Cell Disease | Dravet Syndrome | Duchenne Muscular Dystrophy | Prader-Willi Syndrome | Fragile X Syndrome | Chronic Granulomatous Disease and other conditionsUnited States
-
CENTOGENE GmbH RostockWithdrawnSplenomegaly | Hepatomegaly | Ceramidase Deficiency | Farber's LipogranulomatosisGermany, India, Egypt
-
SanofiApproved for marketing
-
Genzyme, a Sanofi CompanyCompletedSphingomyelin LipidosisBrazil, France, Italy, United States, Germany, United Kingdom
-
Richard FryeAutism Discovery and Treatment FoundationRecruitingEpilepsy | Neurodevelopmental Disorders | Autism Spectrum Disorder | Down Syndrome | Mitochondrial Encephalomyopathies | Pediatric Acute-Onset Neuropsychiatric Syndrome | Cerebral Folate Deficiency | Pediatric Autoimmune Neuropsychiatric Disorder Associated With Streptococcal InfectionUnited States
-
National Human Genome Research Institute (NHGRI)RecruitingMetabolic Disease | Purine-Pyrimidine Metabolism | AICDA, OMIM *605257, Immunodeficiency With Hyper-IgM, Type 2; HIGM2 | UNG, OMIM *191525, Hyper-IgM Syndrome 5 | NT5C3A<TAB>, OMIM *606224, Anemia, Hemolytic, Due to UMPH1 Deficiency | UMPS, OMIM *613891, Orotic Aciduria | DHODH, OMIM *126064,... and other conditionsUnited States
-
National Human Genome Research Institute (NHGRI)Active, not recruitingWiskott- Aldrich Syndrome | ADA Deficient SCIDUnited States
-
Istanbul Medeniyet UniversityCompletedEpilepsy | Ischemic Stroke | Hyperhomocysteinemia, Thrombotic, Cbs-RelatedTurkey
-
Georgetown UniversityCompletedEnd Stage Renal Disease | HyperhomocysteinemiaUnited States
-
Assistance Publique - Hôpitaux de ParisRecruitingPediatric Patients | Any Type of Severe Combined Immunodeficiency (SCID) | Partial HLA Incompatible Allogeneic Hematopoietic Stem Cell Transplantation (HSCT)France
-
Shenzhen Ausa Pharmed Co.,LtdNanfang Hospital of Southern Medical UniversityWithdrawn
-
University of PittsburghRecruitingLysosomal Storage Diseases | Leukodystrophy | Niemann-Pick Diseases | Batten Disease | Gaucher Disease | Krabbe Disease | Alpha-Mannosidosis | Osteopetrosis | Tay-Sachs Disease | Pelizaeus-Merzbacher Disease | Sandhoff Disease | GM1 Gangliosidoses | MPS I | MPS II | Vanishing White Matter Disease | Multiple Sulfatase Deficiency... and other conditionsUnited States
-
Hennepin Healthcare Research InstituteUniversity of Minnesota; Regions HospitalCompletedSmoking | Inflammation | Surgery | Surgery--Complications | Wound Infection | Oxidative Stress | Wound | Mandible Fracture | Mandibular Fractures | Vitamin C Deficiency | Ascorbic Acid Deficiency | Wound Complication | Wound of Skin | Wound Dehiscence | Mandible Open Fracture | Mandible Closed FractureUnited States
-
BioMarin PharmaceuticalCompletedHyperphenylalaninemia (HPA) Due to Phenylketonuria (PKU) or Tetrahydrobiopterin (BH4) DeficiencySweden, France, Italy, Spain, Germany, Netherlands, Austria, Slovakia, Portugal
-
Travere Therapeutics, Inc.Recruiting
-
Hospital de Clinicas de Porto AlegreFundação de Amparo à Pesquisa do Estado do Rio Grande do Sul, BrazilSuspendedCBS DeficiencyBrazil
-
Ludwig-Maximilians - University of MunichCompletedPhenylketonuria | Nutritional DeficienciesGermany
-
Travere Therapeutics, Inc.RecruitingNatural History Study of Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency (ACAPPELLA)Homocystinuria Due to CBS DeficiencyIreland, Qatar, United States, United Kingdom
-
University of Massachusetts, AmherstWithdrawnOxidative Stress | COPD | Tetrahydrobiopterin DeficiencyUnited States
-
Eline C. B. EskesRecruitingAsmd, Visceral TypeNetherlands
-
University Children's Hospital, ZurichCompletedPhenylketonurias | OTC Deficiency | Inborn Errors of Metabolism | Urea Cycle Disorder | Maple Syrup Urine Disease | Methylmalonicacidemia | Aminoacidopathy | Patient Reported Outcome MeasurementsSwitzerland
-
Agios Pharmaceuticals, Inc.RecruitingPyruvate Kinase DeficiencyUnited States, Germany, Spain, Italy, United Kingdom, Czechia, France, Canada, Korea, Republic of, Netherlands, Turkey, Portugal, Denmark, Ireland, Switzerland, Thailand
-
Agios Pharmaceuticals, Inc.Active, not recruitingPyruvate Kinase DeficiencyUnited States, Canada, Netherlands, United Kingdom, France, Italy
-
Rocket Pharmaceuticals Inc.Active, not recruiting
-
Agios Pharmaceuticals, Inc.CompletedAnemia, Hemolytic | Pyruvate Kinase DeficiencyUnited States, United Kingdom, Netherlands, Canada, Denmark, France, Italy, Ireland, Thailand
-
National Human Genome Research Institute (NHGRI)Withdrawn
-
Aeglea BiotherapeuticsTerminatedHomocystinuria Due to Cystathionine Beta-Synthase DeficiencyUnited States, United Kingdom, Australia
-
University of WashingtonNational Heart, Lung, and Blood Institute (NHLBI)CompletedMyocardial Infarction | Heart Diseases | Cardiovascular Diseases | Coronary Disease | Cerebrovascular Accident | Hyperhomocysteinemia
-
Agios Pharmaceuticals, Inc.Active, not recruitingPyruvate Kinase DeficiencyUnited States, Spain, Japan, Canada, United Kingdom, Korea, Republic of, Ireland, Thailand, Italy, Turkey, Denmark, Brazil, France, Germany, Netherlands, Switzerland
-
SphinCS Lyso Gemeinnutzige UG (Haftungsbeschrankt)RecruitingGangliosidoses | Galactosialidosis | Sialidosis | GM1 Gangliosidosis | Tay-Sachs Disease | Sandhoff Disease | Morquio B Disease | Gm2-Gangliosidosis, Variant B1 | GM2 Activator DeficiencyGermany
-
Agios Pharmaceuticals, Inc.CompletedPyruvate Kinase DeficiencyUnited States, Italy, Netherlands
-
CENTOGENE GmbH RostockCompletedPyruvate Kinase DeficiencyUnited States
-
Agios Pharmaceuticals, Inc.CompletedAnemia, Hemolytic | Pyruvate Kinase DeficiencyUnited States, Spain, Switzerland, Turkey, Germany, France, United Kingdom, Japan, Netherlands, Brazil, Canada, Czechia, Denmark, Italy, Korea, Republic of, Thailand
-
National Heart, Lung, and Blood Institute (NHLBI)CompletedMyocardial Infarction | Heart Diseases | Cardiovascular Diseases | Cerebrovascular Disorders | Peripheral Vascular Diseases | Atherosclerosis | Hyperhomocysteinemia
-
Shenzhen Geno-Immune Medical InstituteUnknownSCID, X LinkedChina
-
Assistance Publique - Hôpitaux de ParisURC-CIC Paris Descartes Necker CochinCompletedAdenylosuccinate Lyase DeficiencyFrance
-
Massachusetts General HospitalAgios Pharmaceuticals, Inc.RecruitingAcute Myeloid Leukemia | Myelodysplastic Syndromes | Myeloproliferative Neoplasm | Myelodysplastic/Myeloproliferative Neoplasm | Clonal Cytopenia of Undetermined Significance | Pyruvate Kinase Deficiency | Pyruvate Kinase Deficiency Anemia | Hereditary Hemolytic Anemia | Clonal Myeloid Neoplasm | Other... and other conditionsUnited States
-
Bezmialem Vakif UniversityCompleted
-
Ultragenyx Pharmaceutical IncTerminatedWilson Disease | Ornithine Transcarbamylase Deficiency | Glycogen Storage Disease Type IASpain, United Kingdom, Canada, United States, Brazil
-
St. Jude Children's Research HospitalRecruitingMucopolysaccharidosis I | Severe Combined Immunodeficiency | Neuroblastoma | Neoplasm | Malignancy, HematologicUnited States
-
Boston Children's HospitalAgios Pharmaceuticals, Inc.CompletedPyruvate Kinase Deficiency | Congenital Non-Spherocytic Hemolytic AnemiaUnited States, Germany, Canada, Czechia, Italy, Netherlands