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Results for “Inborn Errors of Metabolism”

3,402 trials

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Showing 20 of 3,402 results

Large-scale testing (Phase 3)Study completedNCT00478647
What this trial is testing

Study of GA-GCB Enzyme Replacement Therapy in Type 1 Gaucher Disease Patients Previously Treated With Imiglucerase

Who this might be right for
Gaucher Disease
Shire 40
Testing effectiveness (Phase 2)Study completedNCT00237185
What this trial is testing

The Efficacy and Safety of Imatinib Mesylate in Patients With Unresectable or Metastatic Gastrointestinal Stromal Tumors Expressing C-kit Gene

Who this might be right for
Unresectable or Metastatic Malignant Gastrointestinal Stromal Tumor (GIST)
Novartis Pharmaceuticals 148
Post-approval studies (Phase 4)Study completedNCT00916643
What this trial is testing

Low-Density Lipoprotein (LDL) Apheresis Using H.E.L.P. Therapy

Who this might be right for
Familial Hypercholesterolemia
B. Braun Medical Inc. 113
Not applicableStudy completedNCT04746989
What this trial is testing

Data Analysis for Drug Repurposing for Effective Alzheimer's Medicines - (DREAM) Probenecid vs Allopurinol

Who this might be right for
Gout
Brigham and Women's Hospital 294,878
Not applicableLooking for participantsNCT03564561
What this trial is testing

Natural History of Pompe Disease

Who this might be right for
Glycogen Storage Disease Type II, Adult
Assistance Publique - Hôpitaux de Paris 20
Not applicableUnknownNCT02000310
What this trial is testing

Molecular and Cellular Mechanisms of Lysosomal Storage Diseases

Who this might be right for
Lysosomal Storage Disorders
O & O Alpan LLC 80
Not applicableEnded earlyNCT04008849
What this trial is testing

A Follow-up Study in Patients With Inherited Metabolic Disorders (IMD) Who Underwent Hematopoietic Stem Cell Transplantation (HSCT) With MGTA-456

Who this might be right for
Inherited Metabolic Disorders (IMD)
Magenta Therapeutics, Inc. 3
Testing effectiveness (Phase 2)Study completedNCT01129648
What this trial is testing

Study to Evaluate sUA-Lowering Activity, Safety & PK Interaction of Oral BCX4208 & Allopurinol Admin. in Subjects w/Gout

Who this might be right for
Gout
BioCryst Pharmaceuticals 87
Very early researchStudy completedNCT03832985
What this trial is testing

Pediatric Reporting of Adult-Onset Genomic Results

Who this might be right for
Hereditary Breast and Ovarian Cancer SyndromeLynch SyndromeFamilial Hypercholesterolemia
Geisinger Clinic 162
Not applicableStudy completedNCT05191355
What this trial is testing

Screening for Hypercholesterolemia in Children Using Dried Blood Spot

Who this might be right for
Hypercholesterolemia
Hospices Civils de Lyon 60
Post-approval studies (Phase 4)Study completedNCT00144768
What this trial is testing

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

Who this might be right for
Mucopolysaccharidosis IHurler's SyndromeHurler-Scheie Syndrome+1 more
Genzyme, a Sanofi Company 25
Post-approval studies (Phase 4)Study completedNCT01391325
What this trial is testing

Allopurinol Outcome Study

Who this might be right for
Gout
Ardea Biosciences, Inc. 1,735
Not applicableEnded earlyNCT04275479
What this trial is testing

Diabetes/ Endocrine Surveillance in SDS

Who this might be right for
Shwachman-Diamond Syndrome
Washington University School of Medicine 11
Not applicableActive Not RecruitingNCT04848779
What this trial is testing

A Prospective Study to Observe & Describe Clinical Outcomes of Alglucosidase Alfa Treatment in Patients ≤6 Months of Age With Infantile-onset Pompe Disease (IOPD)

Who this might be right for
Glycogen Storage Disease Type II
Sanofi 16
Testing effectiveness (Phase 2)WithdrawnNCT02715505
What this trial is testing

Safety and Exploratory Efficacy of HSC835 in Patients With Inherited Metabolic Disorders (IMD)

Who this might be right for
Inherited Metabolic Disorders IMD
Novartis Pharmaceuticals
Testing effectiveness (Phase 2)Ended earlyNCT00467831
What this trial is testing

Pilot Study of a Multi-Drug Regimen for Severe Pulmonary Fibrosis in Hermansky-Pudlak Syndrome

Who this might be right for
Hermansky-Pudlak Syndrome (HPS)Pulmonary FibrosisOculocutaneous Albinism+2 more
National Human Genome Research Institute (NHGRI) 3
Early research (Phase 1)Study completedNCT06180057
What this trial is testing

Bioequivalence Study to Compare Chenodeoxycholic Acid Capsules (250mg Chenodeoxycholic Acid) Versus Chenodeoxycholic Acid Leadiant 250 mg Hard Capsules (250mg Chenodeoxycholic Acid)

Who this might be right for
Cerebrotendinous Xanthomatoses
Humanis Saglık Anonim Sirketi 24
Not applicableStudy completedNCT04804566
What this trial is testing

Understanding Fabry Disease Therapy Choices Through the Eyes of the Patients

Who this might be right for
Fabry Disease
Amicus Therapeutics 44
Large-scale testing (Phase 3)Study completedNCT01275066
What this trial is testing

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

Who this might be right for
MPS IV A
BioMarin Pharmaceutical 177
Not applicableUnknownNCT04476550
What this trial is testing

Clinical Specimen Collection From Pompe Disease Patients

Who this might be right for
Pompe Disease
Serhat Gumrukcu, MD PhD 12
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