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Clinical Trials on Essential Fatty Acid Deficiency (EFAD)
Total 352 results
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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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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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PTC TherapeuticsCompletedBH4 Deficiency | HyperphenylalaninemiaUnited States
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Homology Medicines, IncTerminatedPhenylketonuria | Phenylketonurias | PAH DeficiencyUnited States
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Homology Medicines, IncTerminated
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Taipei Veterans General Hospital, TaiwanBioMarin PharmaceuticalUnknownPAH Deficiency | Pku Phenylketonuria
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Medical University of GrazTechnical University of Munich; Paracelsus Medical University; University of... and other collaboratorsRecruitingInflammation | Obesity | Atherosclerosis | Fatty Liver | Adiponectin DeficiencyAustria
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Institut de Recherches Cliniques de MontrealCanadian Institutes of Health Research (CIHR)RecruitingInflammation | Type 2 Diabetes | Insulin Sensitivity/Resistance | Fatty Acids, Omega-3Canada
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Assiut UniversityCompletedCognitive Dysfunction | Hypercholesterolemia | HyperhomocysteinemiaEgypt
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Fondazione SISA (Societa Italiana per lo Studio...Recruiting
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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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Genzyme, a Sanofi CompanyCompletedPompe Disease (Late-onset) | Glycogen Storage Disease Type II (GSD-II) | Acid Maltase Deficiency Disease | Glycogenosis 2United States, France, Netherlands
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Orphanetics Pharma Entwicklungs GmbHTerminatedPhenylalanine Hydroxylase Deficiencies
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Genzyme, a Sanofi CompanyCompletedPompe Disease (Late-onset) | Glycogen Storage Disease Type II (GSD-II) | Acid Maltase Deficiency Disease | Glycogenosis 2Netherlands
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Genzyme, a Sanofi CompanyCompletedPompe Disease (Late-onset) | Glycogen Storage Disease Type II (GSD-II) | Acid Maltase Deficiency Disease | Glycogenosis 2France
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Hospital Universitario Dr. Jose E. GonzalezLaboratorios Valdecasas S.A.CompletedDiabetic Nephropathies | HyperhomocysteinemiaMexico
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Shenzhen Geno-Immune Medical InstituteUnknownAdenosine DeAminase Severe Combined ImmunoDeficiency (ADA-SCID)China
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Central Hospital, Nancy, FranceNot yet recruitingAlzheimer Disease | Homocystinemia
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Universidade Estadual de LondrinaCompletedCardiovascular Disease | Hemodialysis | Chronic Renal Failure | Uremia | HyperhomocysteinemiaBrazil
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Aeglea BiotherapeuticsCompletedArginase I Deficiency | HyperargininemiaUnited States, Canada, United Kingdom, Portugal
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Aeglea BiotherapeuticsCompletedArginase I Deficiency | HyperargininemiaUnited States, Canada, United Kingdom, Portugal
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Children's Hospital Medical Center, CincinnatiNational Institute of Diabetes and Digestive and Kidney Diseases (NIDDK); National... and other collaboratorsCompletedWolman Disease | Cholesterol Ester Storage Disease | Acid Cholesteryl Ester Hydrolase Deficiency, Type 2United States
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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
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BioMarin PharmaceuticalCompletedTetrahydrobiopterin Deficiencies | Hyperphenylalaninemia, Non-PhenylketonuricGermany, United States
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Baylor College of MedicineCompletedCitrullinemiaUnited States
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National Human Genome Research Institute (NHGRI)Active, not recruitingWiskott- Aldrich Syndrome | ADA Deficient SCIDUnited States
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Georgetown UniversityCompletedEnd Stage Renal Disease | HyperhomocysteinemiaUnited States
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Istanbul Medeniyet UniversityCompletedEpilepsy | Ischemic Stroke | Hyperhomocysteinemia, Thrombotic, Cbs-RelatedTurkey
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Assistance Publique - Hôpitaux de ParisRecruitingPediatric Patients | Any Type of Severe Combined Immunodeficiency (SCID) | Partial HLA Incompatible Allogeneic Hematopoietic Stem Cell Transplantation (HSCT)France
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Shenzhen Ausa Pharmed Co.,LtdNanfang Hospital of Southern Medical UniversityWithdrawn
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University Hospital Inselspital, BerneTerminatedHypopituitarism | Insulin Sensitivity | Hydrocortisone | Lipids | Fatty Acids, NonesterifiedSwitzerland
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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
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Travere Therapeutics, Inc.Recruiting
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Hospital de Clinicas de Porto AlegreFundação de Amparo à Pesquisa do Estado do Rio Grande do Sul, BrazilSuspendedCBS DeficiencyBrazil
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Baylor College of MedicineCompletedUrea Cycle Disorders | Argininosuccinic Aciduria | Argininosuccinate Lyase DeficiencyUnited States
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Ludwig-Maximilians - University of MunichCompletedPhenylketonuria | Nutritional DeficienciesGermany
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Children's National Research InstituteNational Center for Advancing Translational Sciences (NCATS)RecruitingHypoxic-Ischemic Encephalopathy | Urea Cycle Disorder | Organic Acidemia | Fatty Acid Oxidation Disorder | Maple Syrup Urine Disease | Glutaric Acidemia IUnited States
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BioMarin PharmaceuticalCompletedHyperphenylalaninemia (HPA) Due to Phenylketonuria (PKU) or Tetrahydrobiopterin (BH4) DeficiencySweden, France, Italy, Spain, Germany, Netherlands, Austria, Slovakia, Portugal
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University Children's Hospital, ZurichCompletedPhenylketonurias | OTC Deficiency | Inborn Errors of Metabolism | Urea Cycle Disorder | Maple Syrup Urine Disease | Methylmalonicacidemia | Aminoacidopathy | Patient Reported Outcome MeasurementsSwitzerland
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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
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University of Massachusetts, AmherstWithdrawnOxidative Stress | COPD | Tetrahydrobiopterin DeficiencyUnited States
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Alexion PharmaceuticalsCompletedLysosomal Acid Lipase Deficiency | Cholesterol Ester Storage Disease(CESD)United States, United Kingdom, France, Canada, Czech Republic, Italy, Poland, Switzerland
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National Human Genome Research Institute (NHGRI)Withdrawn
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National Institute of Allergy and Infectious Diseases...TerminatedHepatic Steatosis | Cardiac SteatosisUnited 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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Aeglea BiotherapeuticsTerminatedHomocystinuria Due to Cystathionine Beta-Synthase DeficiencyUnited States, United Kingdom, Australia
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Centre Hospitalier Universitaire de LiegeSanofi; Takeda; University of Liege; Orchard Therapeutics; Centre Hospitalier Régional... and other collaboratorsRecruitingCongenital Adrenal Hyperplasia | Hemophilia A | Hemophilia B | Mucopolysaccharidosis I | Mucopolysaccharidosis II | Cystic Fibrosis | Alpha 1-Antitrypsin Deficiency | Sickle Cell Disease | Fanconi Anemia | Chronic Granulomatous Disease | Wilson Disease | Severe Congenital Neutropenia | Ornithine Transcarbamylase... and other conditionsBelgium
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University of WashingtonNational Heart, Lung, and Blood Institute (NHLBI)CompletedMyocardial Infarction | Heart Diseases | Cardiovascular Diseases | Coronary Disease | Cerebrovascular Accident | Hyperhomocysteinemia