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Results for “Inherited Disorders of Metabolism”

4,043 trials

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Showing 20 of 4,043 results

Large-scale testing (Phase 3)Study completedNCT00158600
What this trial is testing

A Placebo-Controlled Study of Safety and Effectiveness of Myozyme (Alglucosidase Alfa) in Patients With Late-Onset Pompe Disease

Who this might be right for
Pompe Disease (Late-onset)Glycogen Storage Disease Type II (GSD-II)Acid Maltase Deficiency Disease+1 more
Genzyme, a Sanofi Company 90
Large-scale testing (Phase 3)WithdrawnNCT03532022
What this trial is testing

Open-label Comparison of Chronocort® Versus Standard Glucocorticoid Replacement Therapy

Who this might be right for
Congenital Adrenal Hyperplasia
Neurocrine UK Limited
Testing effectiveness (Phase 2)Study completedNCT00250939
What this trial is testing

RhGAA in Patients With Late-Onset Pompe Disease

Who this might be right for
Pompe Disease (Late-onset)Glycogen Storage Disease Type II (GSD-II)Acid Maltase Deficiency Disease+1 more
Genzyme, a Sanofi Company 5
Large-scale testing (Phase 3)Study completedNCT03485677
What this trial is testing

Safety and Efficacy of Eliglustat With or Without Imiglucerase in Pediatric Patients With Gaucher Disease (GD) Type 1 and Type 3

Who this might be right for
Gaucher's Disease Type IGaucher's Disease Type III
Sanofi 57
Not applicableStudy completedNCT03082807
What this trial is testing

Dietary Guide in Active Older Adult Men

Who this might be right for
MenDiet ModificationObesity+3 more
P.L.Shupik National Medical Academy of Post-Graduate Education 37
Not applicableStudy completedNCT04526457
What this trial is testing

Is Family Screening Improved by Genetic Testing of Familial Hypercholesterolemia

Who this might be right for
Hypercholesterolemia, Familial
University of Pennsylvania 240
Not applicableUnknownNCT03569501
What this trial is testing

Impact of DHA/Oat on Metabolic Health in Gestational Diabetes Mellitus

Who this might be right for
Gestational Diabetes Mellitus in Pregnancy
Xinhua Hospital, Shanghai Jiao Tong University School of Medicine 80
Large-scale testing (Phase 3)Study completedNCT01600430
What this trial is testing

Vitamin D Supplementation for Extremely Preterm Infants

Who this might be right for
Vitamin D DeficiencyPreterm InfantsBronchopulmonary Dysplasia
University of Alabama at Birmingham 100
Large-scale testing (Phase 3)WithdrawnNCT00935753
What this trial is testing

Trial of Kuvan in Lesch-Nyhan Disease

Who this might be right for
Behavioral Manifestations of Lesch-Nyhan Disease
University of California, San Diego
Early research (Phase 1)Study completedNCT02996812
What this trial is testing

Evaluation of Single Ascending Doses of Subcutaneous Exendin 9-39 in Patients With Post-Bariatric Hypoglycemia

Who this might be right for
Hyperinsulinemia Hypoglycemia
Tracey McLaughlin 9
Not applicableEnded earlyNCT03896607
What this trial is testing

Liver and the Spleen Stifness in Adult Patients With Gaucher's Disease Using Ultrasound Shear Wave Elastography

Who this might be right for
Gaucher DiseaseLiver FibrosisSpleen; Fibrosis
HaEmek Medical Center, Israel 18
Not applicableStudy completedNCT07037706
What this trial is testing

Use of Macrolides in Acute Chest Syndrome: A Multicenter Retrospective Study

Who this might be right for
Sickle Cell DiseaseAcute Chest SyndromeGlucose-6-Phosphate Dehydrogenase Deficiency+2 more
Centre Hospitalier de Saint-Denis 250
Not applicableEnded earlyNCT03246243
What this trial is testing

Quantitative Assessment of Sucking for Early Diagnosis of Brain Injury in Infants at High Risk

Who this might be right for
Hypoxic-Ischemic EncephalopathyHypoglycemiaNeonatal Abstinence Syndrome
Boston Children's Hospital 16
Post-approval studies (Phase 4)Looking for participantsNCT03760835
What this trial is testing

Congenital Adrenal Hyperplasia Once Daily Hydrocortisone Treatment

Who this might be right for
Congenital Adrenal Hyperplasia
Federico II University 150
Not applicableLooking for participantsNCT05848271
What this trial is testing

Natural History Study of Patients with HPDL Mutations

Who this might be right for
Mitochondrial EncephalomyopathiesHereditary Spastic ParaplegiaSpastic Paraplegia+4 more
University of California, San Diego 50
Large-scale testing (Phase 3)Active Not RecruitingNCT03614234
What this trial is testing

Open Label Extension of 2 mg/kg Pegunigalsidase Alfa (PRX-102) Every 4 Weeks in Adult Fabry Disease Patients

Who this might be right for
Fabry Disease
Chiesi Farmaceutici S.p.A. 29
Large-scale testing (Phase 3)Study completedNCT00093899
What this trial is testing

Evaluate an Investigational Drug in Patients With Mixed Hyperlipidemia (0653A-071)(COMPLETED)

Who this might be right for
HyperlipidemiaHypercholesterolemiaHypertriglyceridemia
Organon and Co 611
Not applicableStudy completedNCT01776164
What this trial is testing

Early and Longitudinal Assessment of Neurodegeneration in the Brain and Spinal Cord in Friedreich's Ataxia

Who this might be right for
Friedreich Ataxia
University of Minnesota 85
Not applicableActive Not RecruitingNCT04946409
What this trial is testing

Burden of Disease and Functional Impairment in XLH

Who this might be right for
X Linked Hypophosphatemia
Wuerzburg University Hospital 60
Early research (Phase 1)Study completedNCT01173016
What this trial is testing

Administration of IV Laronidase Post Bone Marrow Transplant in Hurler

Who this might be right for
Hurler Syndrome
Masonic Cancer Center, University of Minnesota 11
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