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Results for “Metabolism, Inborn Errors”

3,373 trials

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Showing 20 of 3,373 results

Testing effectiveness (Phase 2)Study completedNCT02140151
What this trial is testing

Prophylactic Ranibizumab for Exudative Age-related Macular Degeneration

Who this might be right for
Age-related Macular Degeneration
Southern California Desert Retina Consultants, MC 108
Not applicableNo Longer AvailableNCT02233257
What this trial is testing

Expanded Access for Lorenzo's Oil (GTO/GTE) in Adrenoleukodystrophy

Who this might be right for
X-linked Adrenoleukodystrophy
University of Minnesota
Not applicableLooking for participantsNCT07461519
What this trial is testing

Gonadic Function and Pubertal Development in Female Patients With Classic Galactosemia

Who this might be right for
Galactosemia
IRCCS Azienda Ospedaliero-Universitaria di Bologna 60
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 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
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
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
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
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 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
Testing effectiveness (Phase 2)UnknownNCT04455581
What this trial is testing

Determine the Safety, Tolerability, and Efficacy of SHR-1209 in Patients With Familial Hypercholesterolemia

Who this might be right for
Familial Hypercholesterolemia
Jiangsu HengRui Medicine Co., Ltd. 8
Not applicableUnknownNCT05092230
What this trial is testing

Frequency of Pompe Disease in Patients With Myalgia With or Without Hyper Ckemia - Data From the Reference Center (CERCA)

Who this might be right for
Pompe Disease
University Hospital Center of Martinique 100
Testing effectiveness (Phase 2)Study completedNCT01685216
What this trial is testing

Efficacy and Safety Study of Velaglucerase Alfa in Children and Adolescents With Type 3 Gaucher Disease

Who this might be right for
Gaucher Disease, Type 3
Shire 7
Large-scale testing (Phase 3)Active Not RecruitingNCT05222906
What this trial is testing

Study to Evaluate the Efficacy and Safety of Venglustat in Adult and Pediatric Patients With Gaucher Disease Type 3

Who this might be right for
Gaucher's Disease Type III
Sanofi 43
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