Clinical Trials on Carbohydrate Metabolism, Inborn Errors

Total 4381 results

Genzyme, a Sanofi Company

Approved for marketing

Expanded Access Use of Myozyme (Alglucosidase Alfa) in Patients With Infantile-onset Pompe Disease

Glycogen Storage Disease Type II | Glycogenosis 2
Rambam Health Care Campus

Unknown

Screening for Early Detection and Prevention of Pompe Disease in Israel Using Tandem Mass Spectrometry (LC-MS-MS)

Pompe Disease

Israel
Ultragenyx Pharmaceutical Inc

Active, not recruiting

Study of Long-Term Safety and Efficacy on Gene Therapy in Glycogen Storage Disease Type Ia

Glycogen Storage Disease Type IA | Von Gierke's Disease (GSD Type Ia)

Netherlands, United States, Canada, Spain
PATH
Mahidol Oxford Tropical Medicine Research Unit

Terminated

Assessing a Risk Model for G6PD Deficiency

Malaria, Vivax | G6PD Deficiency

Thailand
Shire

Completed

A Study of Patients With Sanfilippo Syndrome Type A (MPS IIIA)

Sanfilippo Syndrome Type A

United States
Masonic Cancer Center, University of Minnesota

Completed

Intrathecal Enzyme Replacement for Hurler Syndrome

Hurler Syndrome

United States
Nadia Ali, PhD
BioMarin Pharmaceutical

Completed

Psychological Concomitants of Morquio Syndrome (The MAP Study) (MAP)

Mucopolysaccharidosis IV | Morquio Disease

United States
Walter Reed Army Institute of Research (WRAIR)

Completed

A Test to Predict the Hemolytic Potential of Drugs in G6PD Deficiency

Glucosephosphate Dehydrogenase Deficiency | Favism

United States
Aldagen

Terminated

ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metabolic Diseases (UCBT-002)

Mucopolysaccharidosis | Inborn Errors of Metabolism | Lysosomal Storage Disorders | Inherited Metabolic Diseases | Peroxisomal Storage Diseases

United States
Jirair Krikor Bedoyan
Ultragenyx Pharmaceutical Inc

Recruiting

Triheptanoin for Children With Primary-Specific Pyruvate Dehydrogenase Complex (PDC) Deficiency

Pyruvate Dehydrogenase Complex Deficiency

United States
University of Florida
Eunice Kennedy Shriver National Institute of Child Health and Human Development... and other collaborators

Active, not recruiting

Trial of Dichloroacetate in Pyruvate Dehydrogenase Complex Deficiency: (DCA/PDCD)

Pyruvate Dehydrogenase Complex Deficiency

United States
Fondazione Telethon

Completed

Use of Phenylbutyrate Therapy for Patients With Pyruvate Dehydrogenase Complex Deficiency. (TIGEM2-PDH)

Pyruvate Dehydrogenase Complex Deficiency

Italy
Central Hospital, Nancy, France

Recruiting

Effect of Enzyme Replacement Therapy in Patients With Juvenile-onset Pompe Disease

Pompe's Disease Juvenile Onset

France
Genzyme, a Sanofi Company

Completed

Study to Compare the Efficacy and Safety of Enzyme Replacement Therapies Avalglucosidase Alfa and Alglucosidase Alfa Administered Every Other Week in Patients With Late-onset Pompe Disease Who Have Not Been Previously Treated for Pompe Disease (COMET)

Glycogen Storage Disease Type II;Pompe's Disease

Czechia, Taiwan, Belgium, Germany, Korea, Republic of, United States, Argentina, Australia, Austria, Brazil, Canada, Denmark, France, Hungary, Italy, Japan, Mexico, Netherlands, Poland, Portugal, Russian Federation, Spain, Switzerland, Turk... and more
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
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
Genzyme, a Sanofi Company

Completed

Pharmacokinetics of Alglucosidase Alfa in Patients With Pompe Disease (PAPAYA)

Pompe Disease | Glycogen Storage Disease Type II (GSD II)

United States, Russian Federation, United Kingdom, Bulgaria, India, Ukraine
Oslo University Hospital

Active, not recruiting

Long-term Treatment With the Ketogenic Diet in Epilepsy

Epilepsy | GLUT1DS1 | PDH Deficiency

Norway
Johannes Gutenberg University Mainz

Unknown

Non-invasive Assessment of Intraocular Pressure in MPS by Use of the Ocular Response Analyzer. (MPSORA)

Mucopolysaccharidosis | Fabry Disease

Germany
Genzyme, a Sanofi Company

Completed

Avalglucosidase Alfa Extension Study (NEO-EXT)

Glycogen Storage Disease Type II Pompe Disease

United States, Belgium, Denmark, France, Germany, Netherlands, United Kingdom
University Children's Hospital, Zurich
Sanofi

Completed

Development of an Assessment Tool for Health-related Quality of Life in Children and Adolescents With Pompe Disease (Pompe_HrQol)

Pompe Disease

Switzerland
Genzyme, a Sanofi Company

Active, not recruiting

A Study to Assess Safety and Efficacy of Avalglucosidase Alfa Administered Every Other Week in Pediatric Patients With Infantile-onset Pompe Disease Previously Treated With Alglucosidase Alfa (Mini-COMET)

Glycogen Storage Disease Type II-Pompe's Disease

United States, France, Japan, Taiwan, United Kingdom
Maastricht University Medical Center

Completed

Pregnancy Chances in Classic Galactosemia

Primary Ovarian Insufficiency | Galactosemias

Netherlands
Alnylam Pharmaceuticals

Completed

An Extension Study of an Investigational Drug, Lumasiran (ALN-GO1), in Participants With Primary Hyperoxaluria Type 1

Primary Hyperoxaluria | PH1 | RNAi Therapeutic | siRNA | AGT

France, United Kingdom, Netherlands, Israel, Germany
Genzyme, a Sanofi Company
BioMarin/Genzyme LLC

Terminated

A Study of the Effect of Aldurazyme® (Laronidase) Treatment on Lactation in Female Patients With Mucopolysaccharidosis I (MPS I) and Their Breastfed Infants

Mucopolysaccharidosis I | Hurler's Syndrome | Hurler-Scheie Syndrome | Scheie

Italy
Dr. Prayuth Sudathip
Medicines for Malaria Venture

Completed

Operational Feasibility of Appropriate Plasmodium Vivax Radical Cure After G6PD Testing in Thailand (ARCTIC)

Malaria, Vivax | G6PD Deficiency

Thailand
BioMarin Pharmaceutical

Terminated

Safety and Exercise Study of Two Doses of BMN 110 for Morquio A Syndrome

Morquio A Syndrome | MPS IVA | Mucopolysaccharidosis IVA

United States, United Kingdom, Canada, Germany
Genzyme, a Sanofi Company
BioMarin/Genzyme LLC

Completed

Phase 3 Extension Study of the Safety and Efficacy of Aldurazyme® (Laronidase) in Mucopolysaccharidosis I (MPS I) Patients

Mucopolysaccharidosis I | Scheie Syndrome | Hurler's Syndrome | Hurler-Scheie Syndrome

United States, Canada, United Kingdom, Brazil, Germany, Italy, Netherlands
Genzyme, a Sanofi Company
BioMarin/Genzyme LLC

Completed

A Dose-optimization Study of Aldurazyme® (Laronidase) in Patients With Mucopolysaccharidosis I (MPS I) Disease

Mucopolysaccharidosis I | Scheie Syndrome | Hurler's Syndrome | Hurler-Scheie Syndrome

Brazil, Canada
Patricia I. Dickson, M.D.
University of California, Los Angeles; FDA Office of Orphan Products Development and other collaborators

Terminated

Intrathecal Enzyme Replacement Therapy for Spinal Cord Compression in Mucopolysaccharidosis (MPS) I

Mucopolysaccharidosis I | Lysosomal Storage Diseases | Spinal Cord Compression

United States, Finland
Medical University of Vienna

Recruiting

Novel Metabolic Muscular Biomarkers in Pompe Disease - a Non-invasive Magnetic Resonance Exploratory Pilot Study. (POMPE)

Pompe Disease | McArdle Disease

Austria
Assistance Publique - Hôpitaux de Paris

Recruiting

Natural History of Pompe Disease (POMPE)

Glycogen Storage Disease Type II, Adult

France
BioMarin Pharmaceutical

Terminated

A Prospective, Noninterventional, Observational Study of Late-Onset Pompe Disease

Late-onset Pompe Patients Untreated or Treated With rhGAA

Spain, Slovenia, Serbia, Korea, Republic of, Greece, Australia, Singapore, Brazil, Canada, Taiwan, Ireland, Poland, Romania
Alnylam Pharmaceuticals

Active, not recruiting

A Study to Evaluate Lumasiran in Patients With Advanced Primary Hyperoxaluria Type 1 (ILLUMINATE-C)

Primary Hyperoxaluria Type 1 | Primary Hyperoxaluria

United States, Italy, France, Lebanon, Belgium, Netherlands, Israel, United Arab Emirates, Australia, Jordan, Turkey
Fundação de Medicina Tropical Dr. Heitor Vieira...
Ministry of Health, Brazil; Medicines for Malaria Venture; Centro de Pesquisa... and other collaborators

Active, not recruiting

Operational Feasibility of Appropriate Radical Cure of Plasmodium Vivax With Tafenoquine or Primaquine After Quantitative G6PD Testing in Brazil (Trust)

Malaria, Vivax | G6PD Deficiency

Brazil
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
Emory University
BioMarin Pharmaceutical

Completed

Pregnancy With Morquio Syndrome - What Are Patients' Perspectives and Has ERT Changed Them? (MorqPreg)

MPS - Mucopolysaccharidosis | Morquio Disease

United States
LYSOGENE

Completed

Long-term Follow-up of Sanfilippo Type A Patients Treated by Intracerebral SAF-301 Gene Therapy

Mucopolysaccharidosis Type III A | Sanfilippo Disease Type A

France
University of Zurich

Completed

Secondary Lactose Intolerance Due to Chronic Norovirus Infection

Chronic Diarrhea

Switzerland
Southern Medical University, China

Unknown

Efficacy of Yinzhihuang Oral Liquid on Indirect Bilirubin of Neonates With Glucose-6-phosphate Dehydrogenase Deficiency

Neonatal Hyperbilirubinemia

China
BioMarin Pharmaceutical

Terminated

A Study to Evaluate the Long-Term Efficacy and Safety of BMN 110 in Patients With Mucopolysaccharidosis IVA (Morquio A Syndrome)

Morquio A Syndrome | MPS IV A | Mucopolysaccharidosis IVA

United Kingdom
LYSOGENE

Completed

Intracerebral Gene Therapy for Sanfilippo Type A Syndrome

Mucopolysaccharidosis Type III A | Sanfilippo Disease Type A

France
Genzyme, a Sanofi Company
BioMarin/Genzyme LLC

Completed

A Study Investigating the Relationship Between the Development of Laronidase Antibody and Urinary GAG (Glycosaminoglycan) Levels in Aldurazyme® Treated Patients

Mucopolysaccharidosis I | Hurler's Syndrome | Hurler-Scheie Syndrome | Scheie's Syndrome

United States
University of Pittsburgh
National Institute of Neurological Disorders and Stroke (NINDS); Rare Diseases...

Recruiting

Natural History and Advanced Genetic Study of Pyruvate Dehydrogenase Complex Deficiencies

Pyruvate Dehydrogenase Complex Deficiency Disease

United States
Baylor Research Institute
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK); National... and other collaborators

Unknown

The Natural History of Mucolipidosis Type IV

Mucolipidosis Type IV

United States
University of Lausanne

Recruiting

Orphan Drugs for Inherited Metabolic Diseases

Inborn Errors of Metabolism

Switzerland
Assistance Publique - Hôpitaux de Paris

Completed

Nutritional Therapy of the Deficits of Oxidation Mitochondrial of the Fatty Acids

Inborn Errors of Metabolism

France
Orchard Therapeutics

Recruiting

A Study to Investigate the Efficacy and Safety of OTL-203 in Subjects With MPS-IH Compared With Standard of Care With Allogeneic HSCT (HURCULES)

MPS-IH (Hurler Syndrome)

Netherlands, United States, Italy, United Kingdom
Menzies School of Health Research
PATH; Indonesia University; Institute of Tropical Medicine, Belgium; UNITAID; Burnet... and other collaborators

Recruiting

Short Course Primaquine for the Radical Cure of P. Vivax Malaria - Indonesia (SCOPE)

Vivax Malaria | G6PD Deficiency

Indonesia
Macfarlane Burnet Institute for Medical Research...
PATH; UNITAID; University of Melbourne; Menzies School of Health Research; Medicines... and other collaborators

Recruiting

Short Course Primaquine for the Radical Cure of P. Vivax - Papua New Guinea (SCOPE)

Vivax Malaria | G6PD Deficiency

Papua New Guinea

Clinical Trials on Carbohydrate Metabolism, Inborn Errors

Sponsors and Collaborators

Medical Conditions

Drug Interventions

CROs by country

CROs in Egypt

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Rare Diseases

Drug Interventions

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