Clinical Trials on Lipoprotein Lipase Deficiency, Familial
Total 150 results
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Wake Forest University Health SciencesCompletedHypophosphatemia | X-linked Hypophosphatemia | Left Ventricular Hypertrophy | Renin-angiotensin SystemUnited States
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Imperial College LondonFu Wai Hospital, Beijing, ChinaCompletedPulmonary Arterial Hypertension | Iron DeficiencyUnited Kingdom, China, Germany
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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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University Of PerugiaRecruitingObesity | Ketosis | Lysosomal Acid Lipase Deficiency | Ketogenic DietingItaly
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Oregon Health and Science UniversityTerminatedImmune System Diseases | Lipid Metabolism, Inborn Errors | Mevalonic Aciduria | Mevalonate Kinase Deficiency | Periodic Fever Syndromes, HereditaryUnited States
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Medialis Ltd.Metabolic Support UKCompletedX-linked Hypophosphatemia (XLH)United Kingdom
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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
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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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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
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Rocket Pharmaceuticals Inc.Not yet recruitingPyruvate Kinase DeficiencySpain, United States
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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
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Westfälische Wilhelms-Universität MünsterICON plcUnknownPseudoxanthoma Elasticum | Generalized Arterial Calcification in Infancy | Autosomal Recessive Hypophosphatemic RicketsGermany
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Agios Pharmaceuticals, Inc.CompletedPyruvate Kinase DeficiencyUnited States, Italy, Netherlands
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CENTOGENE GmbH RostockCompletedPyruvate Kinase DeficiencyUnited States
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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
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ZonMw: The Netherlands Organisation for Health...Cardiff University; University Medical Center Groningen; Erasmus Medical Center; Academisch Medisch Centrum - Universiteit van Amsterdam (AMC-UvA) and other collaboratorsUnknownColorectal Neoplasms, Hereditary Nonpolyposis
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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
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Agios Pharmaceuticals, Inc.Active, not recruitingPyruvate Kinase DeficiencyUnited States, Canada, Netherlands, United Kingdom, France, Italy
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Rocket Pharmaceuticals Inc.Active, not recruiting
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Agios Pharmaceuticals, Inc.CompletedAnemia, Hemolytic | Pyruvate Kinase DeficiencyUnited States, United Kingdom, Netherlands, Canada, Denmark, France, Italy, Ireland, Thailand
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Assistance Publique - Hôpitaux de ParisURC-CIC Paris Descartes Necker CochinCompletedAdenylosuccinate Lyase DeficiencyFrance
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Prof. Evelien Dekker, MD, PhDDutch Digestive Diseases FoundationCompletedColorectal Cancer | Lynch Syndrome | Familial Colorectal Cancer
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Associazione Italiana per lo Studio del PancreasRecruitingLynch Syndrome | BRCA1 Mutation | BRCA2 Mutation | Familial Pancreatic Cancer | Hereditary Pancreatitis | Peutz-Jeghers Syndrome | FAMMM - Familial Atypical Mole Malignant Melanoma SyndromeItaly
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White Plains HospitalActive, not recruitingPancreatic Cancer | Pancreatic Adenocarcinoma | Lynch Syndrome | Pancreas Cancer | HNPCC | Familial Pancreatic Cancer | Hereditary Pancreatitis | BRCA 1/2 | FAMMM | Familial Atypical Multiple Mole Melanoma | Peutz Jeghers SyndromeUnited States
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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
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Baylor College of MedicineCompletedUrea Cycle Disorders | Argininosuccinic Aciduria | Argininosuccinate Lyase DeficiencyUnited States
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Baylor College of MedicineRare Diseases Clinical Research Network; Neogenis LaboratoriesCompletedUrea Cycle Disorders, Inborn | Urea Cycle Disorder | Argininosuccinic Aciduria | Argininosuccinate Lyase DeficiencyUnited States
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Boston Children's HospitalAgios Pharmaceuticals, Inc.CompletedPyruvate Kinase Deficiency | Congenital Non-Spherocytic Hemolytic AnemiaUnited States, Germany, Canada, Czechia, Italy, Netherlands
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Umeå UniversityKarolinska Institutet; Lund University; Göteborg UniversityEnrolling by invitationLynch Syndrome | Hereditary Breast and Ovarian Cancer Syndrome | Familial Breast Cancer | Hereditary Breast Cancer | Familial Colorectal CancerSweden
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University of Puerto RicoNational Cancer Institute (NCI)RecruitingColorectal Neoplasms | Gastric Cancer | Colorectal Cancer | Lynch Syndrome | Colorectal AdenomaPuerto Rico
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Fairview University Medical CenterTerminatedImmunologic Deficiency Syndromes | Common Variable Immunodeficiency | Severe Combined Immunodeficiency | Chronic Granulomatous Disease | Hemophagocytic Lymphohistiocytosis | Wiskott-Aldrich Syndrome | Graft Versus Host Disease | X-linked Agammaglobulinemia | Chediak-Higashi Syndrome | Virus-Associated... and other conditionsUnited States
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Novartis PharmaceuticalsCompleted
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University College, LondonUnknownMitochondrial Diseases | Dystonia, Familial | Sporadic Dystonia | Parkinson Disease, Juvenile | Neurodegeneration With Brain Iron Accumulation 5
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University Hospital Schleswig-HolsteinWithdrawnDisorders of Sex Development | Congenital Adrenal Hyperplasia | Adrenal Insufficiency | Congenital Adrenal Hypoplasia | Mineralocorticoid Deficiency | Intersex
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Michigan Technological UniversityWithdrawnHyper IgD Syndrome | Mevalonate Kinase DeficiencyUnited States, Netherlands
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Fairview University Medical CenterUnknownHemophagocytic Lymphohistiocytosis | Graft Versus Host Disease | Chediak-Higashi Syndrome | Virus-Associated Hemophagocytic Syndrome | X-Linked Lymphoproliferative Syndrome | Familial Erythrophagocytic LymphohistiocytosisUnited States
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University of PennsylvaniaEpigenomics, IncCompletedColorectal Cancer | Lynch Syndrome | Familial Adenomatous Polyposis | Map Syndrome | HnpccUnited States
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University of ArkansasWithdrawnPancreatic Neoplasms | Colorectal Neoplasms, Hereditary Nonpolyposis | BRCA1 Gene Mutation | BRCA2 Gene Mutation | Hereditary Pancreatitis | Ataxia Telangiectasia | Peutz-Jegher's Syndrome | Familial Atypical Mole-Malignant Melanoma SyndromeUnited States
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University of CopenhagenHvidovre University HospitalRecruitingColorectal Cancer | Lynch Syndrome | Familial Adenomatous Polyposis | Hereditary Non-polyposis Colon CancerDenmark
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Albert Einstein College of MedicineEunice Kennedy Shriver National Institute of Child Health and Human Development... and other collaboratorsEnrolling by invitationMucopolysaccharidosis II | Fabry Disease | Niemann-Pick Disease, Type C | Mucopolysaccharidosis VI | Lysosomal Acid Lipase Deficiency | Metachromatic Leukodystrophy | Gaucher Disease | Cerebrotendinous Xanthomatosis | Mucopolysaccharidosis IV A | GM1 Gangliosidosis | Mucopolysaccharidosis VII | Acid Sphingomyelinase... and other conditionsUnited States
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Royal Marsden NHS Foundation TrustRecruitingLynch Syndrome | Familial Adenomatous Polyposis | Hereditary Diffuse Gastric Cancer | Peutz-Jeghers Syndrome | Cowden Syndrome | Li Fraumeni Syndrome | MutYH-associated Polyposis | SMAD4 Gene MutationUnited Kingdom
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H. Lee Moffitt Cancer Center and Research InstituteRecruitingLynch Syndrome | Pancreatic Ductal Adenocarcinoma | Chronic Pancreatitis | Pancreatic Cyst | Ataxia Telangiectasia | FAP | Peutz-Jeghers Syndrome | PALB2 Gene Mutation | BRCA Mutation | Fatty Pancreas | Genetic Pancreatic Cancer | Genetic Pancreatitis | Familial Atypical Multiple Mole-MelanomaUnited States
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St. Jude Children's Research HospitalRecruitingPancreatic Cancer | Hodgkin Lymphoma | Lynch Syndrome | Tuberous Sclerosis | Fanconi Anemia | AML | Non Hodgkin Lymphoma | Familial Adenomatous Polyposis | Acute Leukemia | Nevoid Basal Cell Carcinoma Syndrome | Neurofibromatosis Type 1 | Neuroblastoma | Retinoblastoma | MDS | Rhabdomyosarcoma | Von Hippel-Lindau Disease | Adrenocortical Carcinoma and other conditionsUnited States
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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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Geisinger ClinicNational Human Genome Research Institute (NHGRI)Active, not recruitingLynch Syndrome | Familial Hypercholesterolemia | Hereditary Breast and Ovarian Cancer SyndromeUnited States
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7 Hills Pharma, LLCRecruitingMelanoma | Kidney Cancer | Renal Cell Carcinoma | Hepatocellular Carcinoma | Colorectal Cancer | NSCLC | Non Small Cell Lung Cancer | Skin Cancer | Metastasis | Advanced Solid Tumor | Advanced Cancer | Renal Cell Cancer | Hepatocellular Cancer | Mismatch Repair Deficiency | Pleural Mesothelioma | MSI-High | Anaplastic Lymphoma... and other conditionsUnited States
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Sanford HealthNational Ataxia Foundation; Beyond Batten Disease Foundation; Pitt Hopkins Research... and other collaboratorsRecruitingMitochondrial Diseases | Retinitis Pigmentosa | Myasthenia Gravis | Eosinophilic Gastroenteritis | Multiple System Atrophy | Leiomyosarcoma | Leukodystrophy | Anal Fistula | Spinocerebellar Ataxia Type 3 | Friedreich Ataxia | Kennedy Disease | Lyme Disease | Hemophagocytic Lymphohistiocytosis | Spinocerebellar Ataxia... and other conditionsUnited States, Australia
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Diane GeorgeActive, not recruitingSickle Cell Disease | Hemoglobinopathies | Severe Congenital Neutropenia | Diamond-Blackfan Anemia | Severe Aplastic Anemia | Macrophage Activation Syndrome | Bone Marrow Failure Syndrome | Amegakaryocytic Thrombocytopenia | Schwachman Diamond Syndrome | Primary Immunodeficiency Syndromes | Acquired Immunodeficiency... and other conditionsUnited States
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Cure CMDRecruitingEmery-Dreifuss Muscular Dystrophy | Congenital Myasthenic Syndrome | Limb-Girdle Muscular Dystrophy | Congenital Muscular Dystrophy With ITGA7 (Integrin Alpha-7) Deficiency | Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy and Abnormal Glycosylation of Dystroglycan With Severe Epilepsy) and other conditionsUnited States
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University of NebraskaRecruitingMelanoma | Sarcoma | Kidney Cancer | Leukemia | Breast Cancer | Laryngeal Cancer | Hypopharyngeal Cancer | Nasopharyngeal Cancer | Multiple Myeloma | Gastric Cancer | Pancreatic Cancer | Esophageal Cancer | Small Intestine Cancer | Ovarian Cancer | Lynch Syndrome | Lung Cancer | Rectal Cancer | Prostate Cancer | Gastrointestinal... and other conditionsUnited States