Clinical Trials on Metabolism, Inborn Errors

Total 66490 results

Origin Biosciences

Completed

A Retrospective, Observational, Noninterventional Data Collection Study for Patients With Molybdenum Cofactor Deficiency Who Have Been Previously Treated With Cyclic Pyranopterin Monophosphate (cPMP)

Molybdenum Cofactor Deficiency

United States, Australia, United Kingdom, Germany, Netherlands, Turkey
Alexion Pharmaceuticals

Completed

Open-Label Study of Asfotase Alfa in Infants and Children ≤ 5 Years of Age With Hypophosphatasia (HPP)

Hypophosphatasia

United States, Spain, Australia, United Kingdom, Italy, France, Canada, Germany, Japan, Russian Federation, Saudi Arabia, Turkey
Nutricia Research

Completed

A Collection of Case Studies in Infants With UCD to Evaluate Infant Growth and the Safety of a New Medical Food for UCD

Inborn Errors of Metabolism | Urea Cycle Disorder

United States
University of Pittsburgh

Completed

Review of Charts From Amish/Mennonite Variant PA Patients

Propionic Acidemia

United States
LogicBio Therapeutics, Inc
Alexion Pharmaceuticals, Inc.

Active, not recruiting

Long-term Follow-up Study of Patients Who Received hLB-001 Gene Therapy

Methylmalonic Acidemia

United States
Hvidovre University Hospital
Odense University Hospital

Active, not recruiting

Evaluation of Bone Architecture and Bone Strength in Adults With Hypophosphatasia (HPP) (BABS)

Hypophosphatasia (HPP)

Denmark
PTC Therapeutics
Genzyme, a Sanofi Company

Terminated

Ataluren for Nonsense Mutation Methylmalonic Acidemia

Amino Acid Metabolism, Inborn Errors

France, United Kingdom, Italy, Belgium, Germany, Switzerland
University of Florida

Completed

Study of Glycogen Storage Disease Expression in Carriers

Glycogen Storage Disease

United States
Eunice Kennedy Shriver National Institute of Child...

Completed

Study of Glycogen Storage Disease and Associated Disorders

Glycogen Storage Disease

United States
ModernaTX, Inc.

Recruiting

A Retrospective Study to Characterize Participants With Propionic Acidemia

Propionic Acidemia

United States, Spain, Netherlands, France, United Kingdom, Australia, Canada, Italy
ModernaTX, Inc.

Recruiting

A Long-Term Extension Study to Evaluate the Safety and Clinical Activity of mRNA-3927

Propionic Acidemia

United States, Canada, United Kingdom
Alexion

Withdrawn

Safety and Efficacy Study of ENB-0040 in Juvenile Patients With Hypophosphatasia (HPP)

Hypophosphatasia
CENTOGENE GmbH Rostock

Withdrawn

Biomarker for Hypophosphatasia Disease (BioHypophos) (BioHypophos)

Defective Mineralization

Germany, Sri Lanka, India
Alexion Pharmaceuticals

Completed

Safety and Efficacy Study of Asfotase Alfa in Adolescents and Adults With Hypophosphatasia (HPP)

Hypophosphatasia

United States, Canada
Alexion Pharmaceuticals

Completed

Extension Study of Protocol ENB-002-08 - Study of Asfotase Alfa in Infants and Young Children With Hypophosphatasia (HPP)

Hypophosphatasia

United States, United Arab Emirates, United Kingdom
Alexion Pharmaceuticals

Completed

Post-approval Clinical Study of Asfotase Alfa Treatment for Patients With Hypophosphatasia (HPP) in Japan

Hypophosphatasia
University of Florida
Diabetes Sentry

Terminated

Clinical Evaluation of a Non-Invasive Hypoglycemia Detector in a Glycogen Storage Disease Population

Glycogen Storage Disease

United States
Eunice Kennedy Shriver National Institute of Child...

Completed

Iron Overload in African Americans

Iron Overload | Hemochromatosis

United States
Krzysztof Bankiewicz
National Institute of Neurological Disorders and Stroke (NINDS); University...

Recruiting

A Single-Stage, Adaptive, Open-label, Dose Escalation Safety and Efficacy Study of AADC Deficiency in Pediatric Patients (AADC)

AADC Deficiency

United States
University of British Columbia
Canadian Institutes of Health Research (CIHR); Saudi Arabian Cultural Bureau...

Unknown

Glycogen Storage Disease Breath Test Study

Healthy | Patient Compliance

Canada
Istanbul University
Biruni University

Not yet recruiting

Daily Living Activities and Exercise Capacity in Lipid Storage Diseases

Lipid Storage Disease

Turkey
National Institutes of Health Clinical Center (CC)

Active, not recruiting

Treatment of Hemochromatosis

Hemochromatosis

United States
Nantes University Hospital

Active, not recruiting

HYPOCHOL : A Genetically-based Strategy to Identify New Targets in Cholesterol Metabolism (HYPOCHOL)

Hypobetalipoproteinemia

France
Rennes University Hospital

Completed

Study of the Cellular Diffusion of Tacrolimus Across the Membrane of Mononuclear Cells (DIFF-TAC)

Hemochromatosis

France
University of Campinas, Brazil

Completed

Short-term Effect of Extended-release Niacin on Endothelial Function.

Hypoalphalipoproteinemia

Brazil
Sanquin Research & Blood Bank Divisions
Radboud University Medical Center; Maastricht University Medical Center; Atrium...

Completed

Haemochromatosis:Phlebotomy Versus Erythrocytapheresis Therapy

Hemochromatosis

Netherlands
University of Wisconsin, Madison
Johns Hopkins University; National Institute of Diabetes and Digestive and... and other collaborators

Enrolling by invitation

Confounder-Corrected Quantitative MRI Biomarker of Hepatic Iron Content

Iron Overload | Hemosiderosis | Hemochromatosis

United States
University of Wisconsin, Madison

Completed

Non-invasive Quantification of Liver Iron With MRI

Iron Overload | Hemosiderosis

United States
Hospices Civils de Lyon

Completed

Study of the Absorption of Vitamin E Water-soluble Form (Pegylated) in the Familial Hypocholesterolemia With Chylomicron Retention (VEDROP)

Hypobetalipoproteinemias

France
Seoul National University Hospital

Completed

Pharmacogenetic Study in Patients Received Iron Chelating Agent

Hemosiderosis

Korea, Republic of
Instituto Nacional de Ciencias Medicas y Nutricion...
Instituto Nacional de Cardiologia Ignacio Chavez

Completed

Tomato Consumption and High Density Lipoprotein-cholesterol

Hypoalphalipoproteinemia

Mexico
Maastricht University Medical Center
Annadal stichting

Unknown

Proton Pump Inhibitors in the Prevention of Iron Reaccumulation in Patient With Hereditary Hemochromatosis (He-ppi)

Hemochromatosis

Netherlands, Belgium
University of Bergen
Haukeland University Hospital; Helse Fonna; University Hospital, Akershus

Unknown

Erythrocyte Apheresis Versus Phlebotomy in Hemochromatosis

Hemochromatosis

Norway
Ultragenyx Pharmaceutical Inc

Completed

Safety and Dose-Finding Study of DTX401 (AAV8G6PC) in Adults With Glycogen Storage Disease Type Ia (GSDIa)

GSD1

Netherlands, United States, Canada, Spain
Mendel Tuchman
Eunice Kennedy Shriver National Institute of Child Health and Human Development...

Unknown

N-Carbamylglutamate (Carbaglu) In The Treatment Of Hyperammonemia

Inborn Errors of Metabolism

United States
Alexion Pharmaceuticals

Completed

Safety Study of Human Recombinant Tissue Non-Specific Alkaline Phosphatase Fusion Protein Asfotase Alfa in Adults With Hypophosphatasia (HPP)

Hypophosphatasia (HPP)

United States, Canada
Oregon Health and Science University
National Heart, Lung, and Blood Institute (NHLBI)

Terminated

SLOS: The Effect of Simvastatin in Patients Receiving Cholesterol Supplementation

Smith-Lemli-Opitz Syndrome

United States
TRPHARM
Klinar CRO; Damagen Genetic Diagnostic Center

Enrolling by invitation

A Study on the Prevalence of Mutation of Cerebrotendinous Xanthomatosis (CTX) (F-GENE)

Xanthomatosis, Cerebrotendinous

Turkey
University of Toronto

Unknown

Meta-analysis of the Portfolio Dietary Pattern and Cardiometabolic Risk

Cardiovascular Risk Factor | Cholesterol; Lipidosis

Canada
Kuhnil Pharmaceutical Co., Ltd.

Unknown

Phase 3 Study to Evaluate the Efficacy and Safety of Omega-3-acids Ethylesters 90 in Type Ⅱb Hyperlipidemia

Hyperlipidemia, Familial Combined

Korea, Republic of
Alexion Pharmaceuticals, Inc.
Xcenda, LLC

Active, not recruiting

Patient Reported Outcomes in Adults With Pediatric-onset Hypophosphatasia Treated With Strensiq® (Asfotase Alfa)

Hypophosphatasia

United States
Alexion Pharmaceuticals

Withdrawn

Relieving Burden of Hypophosphatasia in Adults With Functional Impairment Due to Chronic Disease (REBUILD)

Hypophosphatasia
Alexion Pharmaceuticals

Completed

A Retrospective Study of the Natural History of Patients With Severe Perinatal and Infantile Hypophosphatasia (HPP)

Hypophosphatasia (HPP)

United States, Taiwan, United Kingdom, Australia, Canada, Germany, Spain
Alexion Pharmaceuticals

Completed

Safety and Efficacy of Asfotase Alfa in Juvenile Patients With Hypophosphatasia (HPP)

Hypophosphatasia (HPP)

United States, Canada
Alexion Pharmaceuticals

Completed

Extension Study of Protocol ENB-006-09 - Study of Asfotase Alfa in Children With Hypophosphatasia (HPP)

Hypophosphatasia (HPP)

United States, Canada
US Department of Veterans Affairs

Withdrawn

Cholestanol in Humans

Cerebrotendinous Xanthomatosis

United States
Alexion Pharmaceuticals

Completed

Retrospective, Non-interventional Natural History of Patients With Juvenile-onset Hypophosphatasia (HPP)

Hypophosphatasia (HPP)

United States, France, United Kingdom, Canada, Netherlands, Russian Federation, Turkey, Australia
Alexion Pharmaceuticals

Completed

Safety and Efficacy Study of Asfotase Alfa in Severely Affected Infants With Hypophosphatasia (HPP)

Hypophosphatasia (HPP)

United States, Canada, United Arab Emirates, United Kingdom
Novartis Pharmaceuticals

Terminated

Study to Evaluate the Efficacy and Safety of Deferasirox Film-coated Tablet Versus Phlebotomy in Patients With Hereditary Hemochromatosis (HH)

Hereditary Hemochromatosis

Belgium, France, Russian Federation, Romania, Slovakia, Spain, Switzerland
National Heart, Lung, and Blood Institute (NHLBI)

Completed

Cardiac Function in Patients With Hereditary Hemochromatosis

Hereditary Hemochromatosis

United States

Clinical Trials on Metabolism, Inborn Errors

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