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Results for “Inborn Errors of Metabolism”

3,316 trials

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Showing 20 of 3,316 results

Not applicableLooking for participantsNCT06610019
What this trial is testing

Cardiovascular Multimodality Imaging Study

Who this might be right for
Non-ischemic CardiomyopathyCardiomyopathiesHypertrophic Cardiomyopathy+7 more
Montefiore Medical Center 5,000
Post-approval studies (Phase 4)Study completedNCT06925100
What this trial is testing

Investigate the Effectiveness and Safety of Bempedoic Acid in Patients With Primary Hypercholesterolemia or Mixed Dyslipidemia in Taiwan

Who this might be right for
Primary Hypercholesterolemia or Mixed Hyperlipidemia
Daiichi Sankyo 180
Not applicableLooking for participantsNCT03190837
What this trial is testing

A Long-term Follow-up Study of Gaucher Disease

Who this might be right for
Gaucher Disease
Duke University 200
Not applicableStudy completedNCT05388357
What this trial is testing

AI Quantitative Coronary Angiography Versus Optical Coherent Tomography Guidance for Coronary Stent Implantation

Who this might be right for
Coronary VesselsProcedure PCI
Asan Medical Center 400
Post-approval studies (Phase 4)Study completedNCT00144781
What this trial is testing

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

Who this might be right for
Mucopolysaccharidosis IHurler's SyndromeHurler-Scheie Syndrome+1 more
Genzyme, a Sanofi Company 34
Not applicableEnded earlyNCT02095015
What this trial is testing

Mucopolysaccharidosis (MPS) I, II, and VI Screening in a High-Risk Population With Previous Surgical Repair or Presence of Inguinal and/or Umbilical Hernia in Combination With Pediatric ENT Surgery (The HATT Project)

Who this might be right for
Mucopolysaccharidosis (MPS)
Shire 159
Early research (Phase 1)Ended earlyNCT00875160
What this trial is testing

A Study in Type 1 Gaucher Patients to Evaluate the Pharmacokinetics, Safety and Pharmacodynamics of AT2101

Who this might be right for
Type 1 Gaucher Disease
Amicus Therapeutics 1
Large-scale testing (Phase 3)Study completedNCT02526160
What this trial is testing

Study of KRN23 in Adults With X-linked Hypophosphatemia (XLH)

Who this might be right for
X-linked Hypophosphatemia
Kyowa Kirin, Inc. 134
Early research (Phase 1)Study completedNCT01730482
What this trial is testing

Assess the Absorption, Metabolism and Excretion of Migalastat Hydrochloride (AT1001-014)

Who this might be right for
Fabry Disease
Amicus Therapeutics 6
Not applicableStudy completedNCT00484549
What this trial is testing

Fabry : National Initiative of Screening

Who this might be right for
Ischemic Stroke Hospitalized
University Hospital, Clermont-Ferrand 889
Early research (Phase 1)Study completedNCT00830674
What this trial is testing

KRN23 in X-linked Hypophosphatemia

Who this might be right for
X-linked Hypophosphatemia
Kyowa Kirin Co., Ltd. 42
Testing effectiveness (Phase 2)Study completedNCT00004658
What this trial is testing

Phase II Study of Ribose, Uridine, and Thymidine for a Complex Syndrome Involving Excessive 5'-Nucleotidase Activity

Who this might be right for
5'-Nucleotidase Syndrome
National Center for Research Resources (NCRR)
Not applicableStudy completedNCT04631718
What this trial is testing

MRI QSM Imaging for Iron Overload

Who this might be right for
HemochromatosisIron Overload
University of Wisconsin, Madison 63
Not applicableEnded earlyNCT04768348
What this trial is testing

Natural History Clinical Study in Adult PKU

Who this might be right for
PhenylketonuriasPKU
Homology Medicines, Inc 7
Not applicableStudy completedNCT06789068
What this trial is testing

Lactose Intolerance in Infants With Gastrointestinal Disturbances

Who this might be right for
Lactose Intolerance
Ain Shams University 30
Not applicableStudy completedNCT01776918
What this trial is testing

Energy Requirements in Mitochondrial Disease

Who this might be right for
Mitochondrial DiseaseChronic Metabolic Disorder
University of British Columbia 23
Post-approval studies (Phase 4)WithdrawnNCT04189315
What this trial is testing

Relieving Burden of Hypophosphatasia in Adults With Functional Impairment Due to Chronic Disease

Who this might be right for
Hypophosphatasia
Alexion Pharmaceuticals, Inc.
Very early researchLooking for participantsNCT06207552
What this trial is testing

Evaluation of the Safety, Tolerability and Efficacy of a Gene Therapy Drug for the Treatment of Pediatric Fabry Disease

Who this might be right for
Fabry Disease
Children's Hospital of Fudan University 6
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 427
Not applicableStudy completedNCT01879995
What this trial is testing

Phenylketonuria and Hyperphenylalaninemia Nutrition Study

Who this might be right for
Phenylketonuria (PKU) and Hyperphenylalaninemia
University of Zurich 30
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