Search clinical trials for: Carbohydrate Metabolism, Inborn Errors

Total 16986 results

Ultragenyx Pharmaceutical Inc

Terminated

Adeno-Associated Virus (AAV) Antibody Study in Subjects OTC Deficiency, GSDIa, and Wilson Disease

Wilson Disease | Ornithine Transcarbamylase Deficiency | Glycogen Storage Disease Type IA

Spain, United Kingdom, Canada, United States, Brazil
Albert Einstein College of Medicine
Eunice Kennedy Shriver National Institute of Child Health and Human Development... and other collaborators

Enrolling by invitation

ScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening Program (ScreenPlus)

Mucopolysaccharidosis 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 conditions

United States
Duke University

Completed

The Effects of Respiratory Muscle Strength Training (RMST) on Inspiratory and Expiratory Muscle Strength in Adults and Children With Pompe Disease

Pompe Disease

United States
Talaris Therapeutics Inc.
Duke University

Terminated

Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders

Niemann-Pick Disease | Alpha-mannosidosis | Tay Sachs Disease | Sandhoff Disease | Metachromatic Leukodystrophy (MLD) | Hurler-Scheie Syndrome | Hurler Syndrome (MPS I) | Hunter Syndrome (MPS II) | Sanfilippo Syndrome (MPS III) | Krabbe Disease (Globoid Leukodystrophy) | Adrenoleukodystrophy (ALD and AMN) | Pelizaeus...

United States
Fundação de Medicina Tropical Dr. Heitor Vieira...
Oswaldo Cruz Foundation; Conselho Nacional de Desenvolvimento Científico e...

Active, not recruiting

Safety and Efficacy of Different Regimens of Primaquine on Vivax Malaria Treatment in G6PD Deficient Patients

Vivax Malaria | G6PD Deficiency

Brazil
LIB Therapeutics LLC
Medpace, Inc.

Enrolling by invitation

Long-term Efficacy and Safety of OLE LIB003 in HoFH, HeFH, and High-risk CVD Patients Requiring Further LDL-C Reduction (LIBerate-OLE)

Familial Hypercholesterolemia | Elevated Cholesterol | Cardiovascular Disease With Mention of Arteriosclerosis

United States, Israel, Norway, South Africa, Turkey, India
LIB Therapeutics LLC

Completed

Phase 3 Study to Evaluate the Efficacy and Safety of LIB003 With Evolocumab in HoFH

Homozygous Familial Hypercholesterolemia

United States, Israel, Norway, South Africa, Turkey, India
Spark Therapeutics

Completed

Neutralizing Antibody Seroprevalence Study With a Retrospective Component in Participants With Late-Onset Pompe Disease

Lysosomal Storage Diseases | Glycogen Storage Disease Type 2 | Pompe Disease (Late-onset) | Pompe Disease | LOPD | Acid Maltase Deficiency

United States, Italy, United Kingdom, Netherlands, France, Germany
Genzyme, a Sanofi Company

Completed

Safety and Efficacy Evaluation of Repeat neoGAA Dosing in Late Onset Pompe Disease Patients.

Pompe Disease | Glycogen Storage Disease Type II (GSD II) | Acid Maltase Deficiency

United States, Belgium, Denmark, France, Germany, Netherlands, United Kingdom
Centre Hospitalier Universitaire de Nice

Completed

Frequency of Pompe's Disease and Neuromuscular Etiologies in Patients With Restrictive Respiratory Failure Associated With Signs of Muscle Weakness (POPS3)

Pompe Disease

France
Lundquist Institute for Biomedical Innovation at...

Active, not recruiting

Study to Evaluate the Safety and Efficacy of Adalimumab in MPS I, II, and VI

Mucopolysaccharidosis I | Mucopolysaccharidosis II | Mucopolysaccharidosis VI

United States
ArmaGen, Inc

Completed

Extension Study Evaluating Long Term Safety and Activity of AGT-181 in Children With MPS I

Mucopolysaccharidosis I

Brazil
ArmaGen, Inc

Completed

Safety and Dose Ranging Study of Human Insulin Receptor MAb-IDUA Fusion Protein in Adults and Children With MPS I

Mucopolysaccharidosis I

Brazil
Rocket Pharmaceuticals Inc.

Active, not recruiting

Gene Therapy for Male Patients With Danon Disease (DD) Using RP-A501; AAV9.LAMP2B

Danon Disease

United States
Applied Therapeutics, Inc.

Active, not recruiting

Clinical Benefit, Safety, PK and PD Study of AT-007 in Pediatric Subjects With Classic Galactosemia

Classic Galactosemia

United States
Stanford University

Completed

Effects of Raw Versus Other Milk Sources on Lactose Digestion

Lactose Intolerance

United States
ArmaGen, Inc

Completed

Safety and Dose Ranging Study of Insulin Receptor MAb-IDUA Fusion Protein in Patients With MPS I

Mucopolysaccharidosis I

United States
CENTOGENE GmbH Rostock

Withdrawn

Biomarker for Mucolipidosis Disorder Type I, II, III, IV (BioML) (BioML)

Skeletal Abnormalities | Psychomotor Retardation

Germany, India, Sri Lanka, Egypt
CENTOGENE GmbH Rostock

Withdrawn

Biomarker for Glycogen Storage Diseases (BioGlycogen) (BioGlycogen)

Fructose Metabolism, Inborn Errors | Glycogen Storage Disease Type II | Glycogen Storage Disease | Glycogen Storage Disease Type V | Glycogen Storage Disease Type I | Glycogen Storage Disease Type III | Glycogen Storage Disease Type VII | Glycogen Storage Disease Type IV | Glycogen Storage Disease Type... and other conditions

Germany, India, Sri Lanka
CENTOGENE GmbH Rostock

Withdrawn

Biomarker for Hurler Disease (BioHurler) (BioHurler)

Metabolism, Inborn Errors | Mucopolysaccharidosis Type I | Gargoylism

Germany, India, Sri Lanka, Egypt
CENTOGENE GmbH Rostock

Withdrawn

Biomarker for Sly Disease (MPS VII) (BioSly) (BioSly)

Developmental Delay | Splenomegaly | Hepatomegaly | Skeletal Abnormalities

Germany, India, Sri Lanka, Egypt
Rigshospitalet, Denmark
University College, London

Completed

Modified Ketogenic Diet in Patients With McArdle Disease Part B

McArdle Disease

Denmark, United Kingdom
CENTOGENE GmbH Rostock

Withdrawn

Biomarker for Mannosidosis Disease (BioMannosidosis) (BioMannosido)

Alpha-Mannosidase B Deficiency | Lysosomal Alpha B Mannosidosis | Alpha-Mannosidase Deficiency

India, Sri Lanka, Germany
Nicoline Løkken

Completed

Ketogenic Diet Survey in Patients With McArdle Disease (GSDV)

McArdle Disease

Denmark
Rigshospitalet, Denmark

Completed

MRI in McArdle Disease (GSDV)

Glycogen Storage Disease Type V

Denmark
CENTOGENE GmbH Rostock

Withdrawn

Biomarker for Maroteaux-Lamy Disease (BioMaroteaux) (BioMaroteaux)

Lung Diseases | Eye Abnormalities | Lysosomal Storage Disease | Macroglossia | Obstructive Sleep Apnoea

Germany, India, Sri Lanka, Egypt
CENTOGENE GmbH Rostock

Withdrawn

Biomarker for Morquio Disease (BioMorquio) (BioMorquio)

Morquio Syndrome A | Morquio Syndrome | Morquio B Disease | Accumulation of Mucopolysaccharides

Germany, India, Sri Lanka, Egypt
CENTOGENE GmbH Rostock

Withdrawn

Biomarker for Pompe Disease (BioPompe) (BioPompe)

Lung Disease | Cerebral Aneurysm | Macroglossia | Cardiac Diseases | Obstructive Sleep Apnoea | Muscular Weakness | Hepato-splenomegaly

Germany, India, Sri Lanka
CENTOGENE GmbH Rostock

Terminated

Biomarkers for Hunter Syndrome (BioHunter)

Mucopolysaccharidosis II | Hunter Syndrome | Hunter's Syndrome, Mild Form | Hunter's Canal Syndrome

Mexico
CENTOGENE GmbH Rostock

Completed

Pyruvate Kinase Deficiency Epidemiological Study (PIECE) (PIECE)

Pyruvate Kinase Deficiency

United States
Sangamo Therapeutics

Terminated

Ascending Dose Study of Genome Editing by the Zinc Finger Nuclease (ZFN) Therapeutic SB-318 in Subjects With MPS I

MPS I

United States
Allievex Corporation

Active, not recruiting

A Treatment Extension Study of Mucopolysaccharidosis Type IIIB

Mucopolysaccharidosis Type IIIB | MPS III B

Germany, United States, Turkey, United Kingdom, Colombia, Spain, Taiwan
BioMarin Pharmaceutical

Terminated

A Study of Respiratory Muscle Strength in Patients With Late-onset Pompe Disease (LOPD)

Late-onset Pompe Disease

United States, United Kingdom
Hospital de Clinicas de Porto Alegre
The Isaac Foundation

Active, not recruiting

Evaluation of Losartan on Cardiovascular Disease in Patients With Mucopolysaccharidoses IV A and VI

Mucopolysaccharidoses | Mucopolysaccharidosis VI | Morquio A Syndrome | Mucopolysaccharidosis IV A | MPS IV A | MPS VI | MPS - Mucopolysaccharidosis | Morquio Syndrome A | Morquio Syndrome

Brazil
JCR Pharmaceuticals Co., Ltd.

Completed

A Study of JR-171 in Patients With Mucopolysaccharidosis I

Mucopolysaccharidosis I

United States, Brazil, Japan
METAFORA biosystems
Assistance Publique - Hôpitaux de Paris; European Commission; Ministry for Health... and other collaborators

Completed

Early Diagnosis of the GLUT1 Deficiency Syndrome With a Blood Based Test (METAglut1)

Movement Disorders | Intellectual Disability | Seizures | Ataxia | Glut1 Deficiency Syndrome | De Vivo Disease

France
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
JCR Pharmaceuticals Co., Ltd.

Completed

A Study of JR-141 in Patients With Mucopolysaccharidosis Type II

Mucopolysaccharidosis II

Japan
JCR Pharmaceuticals Co., Ltd.

Completed

A Study of JR-141 in Patients With Mucopolysaccharidosis II

Mucopolysaccharidosis II

Brazil
JCR Pharmaceuticals Co., Ltd.

Completed

A Study of JR-141 in Patients With Mucopolysaccharidosis II

Mucopolysaccharidosis II

Japan
Mads Peter Godtfeldt Stemmerik
Edgewise Therapeutics, Inc.

Completed

Fast Troponin as a Biomarker to Assess Exercise-induced Muscle Damage in Muscle Diseases

Becker Muscular Dystrophy | McArdle Disease | Limb-Girdle Muscular Dystrophy Type 2

Denmark
Allievex Corporation

Active, not recruiting

A Prospective Natural History Study of Mucopolysaccharidosis Type IIIB (MPS IIIB)

Mucopolysaccharidosis Type IIIB

United States, Germany, Spain, Argentina, Australia, Brazil, Colombia, Taiwan, Turkey
Sangamo Therapeutics

Terminated

Ascending Dose Study of Genome Editing by the Zinc Finger Nuclease (ZFN) Therapeutic SB-913 in Subjects With MPS II

Mucopolysaccharidosis II | MPS II

United States
New York Medical College

Completed

Human Placental-Derived Stem Cell Transplantation (HPDSC)

Mucopolysaccharidosis I | Myelodysplastic Syndrome | Acute Lymphocytic Leukemia | Acute Myelogenous Leukemia | Niemann-Pick Disease | Mucopolysaccharidosis VI | Wolman Disease | Adrenoleukodystrophy | Batten Disease | Metachromatic Leukodystrophy | Diamond-Blackfan Anemia | Severe Aplastic Anemia | Fucosidosis | Gaucher... and other conditions

United States
Turkish Society of Pediatric Gastroenterology,...

Completed

Study Determining the Frequency of Duchenne Muscular Dystrophy and Late-onset Pompe Disease (VICTORIA)

Duchenne Muscular Dystrophy | Pompe Disease (Late-onset)

Turkey
Oslo University Hospital

Active, not recruiting

Long-term Treatment With the Ketogenic Diet in Epilepsy

Epilepsy | GLUT1DS1 | PDH Deficiency

Norway
REGENXBIO Inc.

Withdrawn

Mucopolysaccharidosis Type II Observational

Mucopolysaccharidosis II

United States, Canada
Masonic Cancer Center, University of Minnesota

Withdrawn

MT2018-18: Sleeping Beauty Transposon-Engineered Plasmablasts for Hurler Syndrome Post Allo HSCT

Mucopolysaccharidosis Type IH | Mucopolysaccharidosis Type IH (MPS IH, Hurler Syndrome) | MPS IH, Hurler Syndrome
Ultragenyx Pharmaceutical Inc

Completed

Study to Evaluate Biomarkers and Clinical Manifestations in Individuals With Glycogen Storage Disease Type III (GSD III)

Glycogen Storage Disease Type III

United States
NYU Langone Health
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)

Completed

Health-related Quality of Life in Rare Kidney Stone

Cystinuria | Primary Hyperoxaluria | Dent Disease | Adenine Phosphoribosyl Transferase Deficiency

United States, Iceland

Search clinical trials for: Carbohydrate Metabolism, Inborn Errors

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