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Results for “Inherited Metabolic Diseases”

4,902 trials

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Showing 20 of 4,902 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
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
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 applicableEnrolling By InvitationNCT07316075
What this trial is testing

Multicenter Study on Cardiovascular and Metabolic Complications in Patients With Biochemically Silent Pheochromocytomas and Paragangliomas

Who this might be right for
Cardiovascular AbnormalitiesArterial Blood PressureHeart Rate+6 more
Laikο General Hospital, Athens 50
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
Early research (Phase 1)Ended earlyNCT00060515
What this trial is testing

RG2133 (2',3',5'-Tri-O-Acetyluridine) in Mitochondrial Disease

Who this might be right for
Mitochondrial Diseases
Repligen Corporation 12
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
Not applicableUnknownNCT00929097
What this trial is testing

Implementation of Guidelines on Hereditary or Familial Colorectal Cancer

Who this might be right for
Colorectal Neoplasms, Hereditary Nonpolyposis
ZonMw: The Netherlands Organisation for Health Research and Development 300
Not applicableStudy completedNCT06058910
What this trial is testing

Bilistick Point-of-care System 2.0 Bilirubin Validation

Who this might be right for
Neonatal ScreeningKernicterusNewborn Jaundice+1 more
Kettering Health Network 80
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
Not applicableNo Longer AvailableNCT04381091
What this trial is testing

Expanded Access Program for Idebenone in Patients With Leber's Hereditary Optic Neuropathy Who Completed the LEROS Study

Who this might be right for
Leber's Hereditary Optic Neuropathy
Santhera Pharmaceuticals
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
Large-scale testing (Phase 3)Active Not RecruitingNCT05680818
What this trial is testing

Efficacy and Safety of Encaleret Compared to Standard of Care in Participants With ADH1

Who this might be right for
Autosomal Dominant Hypocalcemia (ADH)
Calcilytix Therapeutics, Inc., a BridgeBio company 67
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