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ClinicalTrials.gov public records Last synced Oct 17, 2026, 7:20 AM EDT

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Showing 985–1008 of 10,533 matching trials from the live ClinicalTrials.gov search.
Filters: Condition: Congenital Diseases Clear all
Approved For Marketing No phase listed Expanded access

Open-Label Expanded Access Treatment With Pegunigalsidase Alfa for Fabry Disease Patients

NCT04552691
View directory record Official record
Conditions
Fabry Disease
Interventions
Pegunigalsidase Alfa
Drug
Lead sponsor
Chiesi Farmaceutici S.p.A.
Industry
Eligibility
18 Years and older
U.S. locations
11
States / cities
Birmingham, Alabama • Phoenix, Arizona • Orange, California + 8 more
Source: ClinicalTrials.gov public record
Updated Jul 31, 2024 · Synced Oct 17, 2026, 7:20 AM EDT
Recruiting Phase 1 Interventional Accepts healthy volunteers

Hyperpolarized 129Xe MR Imaging of Lung Function in Healthy Volunteers and Subjects With Pulmonary Disease

NCT04624490
View directory record Official record
Conditions
Asthma, COPD, Interstitial Lung Disease, Cystic Fibrosis, Pulmonary Hypertension, Pulmonary Infection, Other Lung Disease
Interventions
Hyperpolarized Xe129
Drug
Lead sponsor
Mario Castro, MD, MPH
Other
Eligibility
3 Years and older
Enrollment
260 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2020 – 2028
U.S. locations
1
States / cities
Kansas City, Kansas
Source: ClinicalTrials.gov public record
Updated May 6, 2026 · Synced Oct 17, 2026, 7:20 AM EDT
Completed No phase listed Observational Results available

Bone Health in Facioscapulohumeral Muscular Dystrophy

NCT02413190
View directory record Official record
Conditions
Facioscapulohumeral Muscular Dystrophy
Interventions
Not listed
Lead sponsor
Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
Other
Eligibility
18 Years to 100 Years
Enrollment
94 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2016
U.S. locations
1
States / cities
Baltimore, Maryland
Source: ClinicalTrials.gov public record
Updated Nov 5, 2019 · Synced Oct 17, 2026, 7:20 AM EDT
Completed No phase listed Observational

Brain-Behavior Interactions in Tic Suppression

NCT02205918
View directory record Official record
Conditions
Tourette's Syndrome, Chronic Motor Tic Disorder, Chronic Vocal Tic Disorder
Interventions
Active TMS, Sham TMS
Other
Lead sponsor
University of Minnesota
Other
Eligibility
12 Years to 18 Years
Enrollment
30 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2019
U.S. locations
1
States / cities
Minneapolis, Minnesota
Source: ClinicalTrials.gov public record
Updated Jul 17, 2020 · Synced Oct 17, 2026, 7:20 AM EDT
Completed Phase 1Phase 2 Interventional Results available

Dose-Esc/Exp RMC4630 & Cobi in Relapsed/Refractory Solid Tumors & RMC4630& Osi in EGFR+ Locally Adv/Meta NSCLC

NCT03989115
View directory record Official record
Conditions
Solid Tumor
Interventions
RMC-4630, Cobimetinib, Drug: Osimertinib
Drug
Lead sponsor
Revolution Medicines, Inc.
Industry
Eligibility
18 Years and older
Enrollment
113 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2022
U.S. locations
21
States / cities
Scottsdale, Arizona • Duarte, California • Orange, California + 18 more
Source: ClinicalTrials.gov public record
Updated Jun 26, 2023 · Synced Oct 17, 2026, 7:20 AM EDT
Completed Phase 3 Interventional Results available

Study of Octaplex, a Four-factor Prothrombin Complex Concentrate (4F-PCC) and Beriplex® P/N (Kcentra) for the Reversal of Vitamin K Antagonist (VKA) Induced Anticoagulation in Patients Needing Urgent Surgery With Significant Bleeding Risk.

NCT02740335
View directory record Official record
Conditions
Significant Bleeding Risk
Interventions
Octaplex, Beriplex P/N (Kcentra)
Drug
Lead sponsor
Octapharma
Industry
Eligibility
18 Years and older
Enrollment
208 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2022
U.S. locations
22
States / cities
Aurora, Colorado • New Haven, Connecticut • Miami, Florida + 14 more
Source: ClinicalTrials.gov public record
Updated Mar 8, 2023 · Synced Oct 17, 2026, 7:20 AM EDT
Not listed Phase 3 Interventional

Vaccine Therapy and GM-CSF in Treating Patients With Acute Myeloid Leukemia in Remission

NCT00454168
View directory record Official record
Conditions
Leukemia
Interventions
PR1 leukemia peptide vaccine, sargramostim, placebo
Biological · Other
Lead sponsor
The Vaccine Company
Industry
Eligibility
18 Years and older
Enrollment
244 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2005
U.S. locations
15
States / cities
Scottsdale, Arizona • Los Angeles, California • South San Francisco, California + 10 more
Source: ClinicalTrials.gov public record
Updated Jan 6, 2014 · Synced Oct 17, 2026, 7:20 AM EDT
Terminated Phase 2 Interventional

Safety and Efficacy of OMS643762 in Subjects With Huntington's Disease

NCT02074410
View directory record Official record
Conditions
Huntington's Disease
Interventions
OMS643762, Placebo
Drug
Lead sponsor
Omeros Corporation
Industry
Eligibility
18 Years to 65 Years
Enrollment
22 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014
U.S. locations
9
States / cities
San Diego, California • Englewood, Colorado • Gainesville, Florida + 6 more
Source: ClinicalTrials.gov public record
Updated Oct 22, 2018 · Synced Oct 17, 2026, 7:20 AM EDT
Completed Phase 3 Interventional Results available

Clobazam in Patients With Lennox-Gastaut Syndrome

NCT00518713
View directory record Official record
Conditions
Epilepsy, Epilepsy, Generalized, Seizures
Interventions
Clobazam Low Dose, Clobazam Medium Dose, Clobazam High Dose, Placebo
Drug
Lead sponsor
Lundbeck LLC
Industry
Eligibility
2 Years to 60 Years
Enrollment
238 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2007 – 2010
U.S. locations
34
States / cities
Huntsville, Alabama • Phoenix, Arizona • Los Angeles, California + 26 more
Source: ClinicalTrials.gov public record
Updated Feb 9, 2012 · Synced Oct 17, 2026, 7:20 AM EDT
Completed No phase listed Observational Accepts healthy volunteers

PKU Skin Stripping

NCT04368624
View directory record Official record
Conditions
Phenylketonurias
Interventions
Skin Tape, Blood Draw
Other · Diagnostic Test
Lead sponsor
Children's Hospital Medical Center, Cincinnati
Other
Eligibility
Not listed
Enrollment
86 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2015 – 2021
U.S. locations
1
States / cities
Cincinnati, Ohio
Source: ClinicalTrials.gov public record
Updated Jul 28, 2021 · Synced Oct 17, 2026, 7:20 AM EDT
Completed Phase 2Phase 3 Interventional

Fetal Cerebrovascular Autoregulation in Congenital Heart Disease and Association With Neonatal Neurobehavior

NCT05767385
View directory record Official record
Conditions
Congenital Heart Disease in Children, Hypoxia, Neurodevelopmental Disorders, Complex Congenital Heart Disease
Interventions
Single Arm, Neonatal Neurobehavioral Scale
Procedure
Lead sponsor
University of Utah
Other
Eligibility
0 Years to 52 Years · Female only
Enrollment
104 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2025
U.S. locations
5
States / cities
San Francisco, California • Washington D.C., District of Columbia • Scarborough, Maine + 1 more
Source: ClinicalTrials.gov public record
Updated Jul 14, 2026 · Synced Oct 17, 2026, 7:20 AM EDT
Completed Phase 4 Interventional Results available

Dupilumab in Adolescent and Adult Skin of Color Participants: Open-label Moderate-to-severe Eczema Trial

NCT05590585
View directory record Official record
Conditions
Moderate-to-Severe Atopic Dermatitis, Atopic Eczema
Interventions
dupilumab, Topical emollient (moisturizer)
Drug · Other
Lead sponsor
Regeneron Pharmaceuticals
Industry
Eligibility
12 Years and older
Enrollment
124 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2024
U.S. locations
30
States / cities
Birmingham, Alabama • Montgomery, Alabama • Fremont, California + 20 more
Source: ClinicalTrials.gov public record
Updated May 27, 2026 · Synced Oct 17, 2026, 7:20 AM EDT
Completed Phase 2 Interventional Results available

Stem Cell Transplant w/Laronidase for Hurler

NCT00176891
View directory record Official record
Conditions
Mucopolysaccharidosis I, Hurler Syndrome
Interventions
Stem Cell Transplant, Laronidase ERT
Procedure · Drug
Lead sponsor
Masonic Cancer Center, University of Minnesota
Other
Eligibility
Up to 7 Years
Enrollment
25 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2004 – 2012
U.S. locations
1
States / cities
Minneapolis, Minnesota
Source: ClinicalTrials.gov public record
Updated Jul 11, 2019 · Synced Oct 17, 2026, 7:20 AM EDT
Terminated Phase 3 Interventional

Oral Epalrestat Therapy in Pediatric Subjects With PMM2-CDG

NCT04925960
View directory record Official record
Conditions
Pmm2-CDG, Phosphomannomutase 2 Deficiency, Phosphomannomutase 2 Congenital Disorder of Glycosylation, Phosphomannomutase II Congenital Disorder of Glycosylation, Phosphomannomutase II Deficiency
Interventions
Epalrestat, Placebo
Drug
Lead sponsor
Maggie's Pearl, LLC
Industry
Eligibility
2 Years to 17 Years
Enrollment
42 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2025
U.S. locations
1
States / cities
Rochester, Minnesota
Source: ClinicalTrials.gov public record
Updated Sep 25, 2025 · Synced Oct 17, 2026, 7:20 AM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Inherited Retinal Degenerative Disease Registry

NCT02435940
View directory record Official record
Conditions
Eye Diseases Hereditary, Retinal Disease, Achromatopsia, Bardet-Biedl Syndrome, Bassen-Kornzweig Syndrome, Batten Disease, Best Disease, Choroidal Dystrophy, Choroideremia, Cone Dystrophy, Cone-Rod Dystrophy, Congenital Stationary Night Blindness, Enhanced S-Cone Syndrome, Fundus Albipunctatus, Goldmann-Favre Syndrome, Gyrate Atrophy, Juvenile Macular Degeneration, Kearns-Sayre Syndrome, Leber Congenital Amaurosis, Refsum Syndrome, Retinitis Pigmentosa, Retinitis Punctata Albescens, Retinoschisis, Rod-Cone Dystrophy, Rod Dystrophy, Rod Monochromacy, Stargardt Disease, Usher Syndrome
Interventions
Not listed
Lead sponsor
Foundation Fighting Blindness
Other
Eligibility
Not listed
Enrollment
20,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2014 – 2037
U.S. locations
1
States / cities
Columbia, Maryland
Source: ClinicalTrials.gov public record
Updated May 19, 2026 · Synced Oct 17, 2026, 7:20 AM EDT
Completed Phase 1 Interventional

Pharmacokinetic, Safety and Tolerability Study of Recombinant Von Willebrand Factor / Recombinant Factor VIII Complex in Type 3 Von Willebrand Disease

NCT00816660
View directory record Official record
Conditions
Von Willebrand Disease
Interventions
Recombinant von Willebrand factor : recombinant FVIII (rVWF:rFVIII), Marketed plasma-derived VWF/FVIII concentrate
Biological
Lead sponsor
Baxalta now part of Shire
Industry
Eligibility
18 Years to 60 Years
Enrollment
32 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2008 – 2010
U.S. locations
10
States / cities
Atlanta, Georgia • Chicago, Illinois • Indianapolis, Indiana + 7 more
Source: ClinicalTrials.gov public record
Updated May 3, 2021 · Synced Oct 17, 2026, 7:20 AM EDT
Not listed Not applicable Interventional Accepts healthy volunteers

Comparing the Inflammation, Maldigestion and Symptoms Due to Commercial Milk and A2 Milk

NCT05660278
View directory record Official record
Conditions
Lactose Intolerance
Interventions
Milk containing A1 and A2 beta-casein, Milk containing only A2 beta-casein
Other
Lead sponsor
Purdue University
Other
Eligibility
18 Years to 65 Years
Enrollment
35 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2022 – 2025
U.S. locations
1
States / cities
West Lafayette, Indiana
Source: ClinicalTrials.gov public record
Updated Dec 21, 2022 · Synced Oct 17, 2026, 7:20 AM EDT
Completed Not applicable Interventional Results available

COMPASSION - COngenital Multicenter Trial of Pulmonic VAlve Regurgitation Studying the SAPIEN InterventIONal THV

NCT00676689
View directory record Official record
Conditions
Pulmonary Valve Insufficiency, Pulmonary Regurgitation, Dysfunctional RVOT Conduit, Pulmonary Obstruction, Pulmonary Stenosis
Interventions
SAPIEN Transcatheter Valve Implantation
Device
Lead sponsor
Edwards Lifesciences
Industry
Eligibility
Not listed
Enrollment
81 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2008 – 2019
U.S. locations
7
States / cities
Los Angeles, California • Miami, Florida • Atlanta, Georgia + 4 more
Source: ClinicalTrials.gov public record
Updated Feb 26, 2020 · Synced Oct 17, 2026, 7:20 AM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Technical and Translational Development of Cardiovascular Magnetic Resonance (CMR) Imaging

NCT03581318
View directory record Official record
Conditions
Normal and Abnormal Cardiovascular Physiology
Interventions
Not listed
Lead sponsor
National Heart, Lung, and Blood Institute (NHLBI)
NIH
Eligibility
7 Years to 100 Years
Enrollment
5,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2018 – 2028
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Oct 5, 2026 · Synced Oct 17, 2026, 7:20 AM EDT
Completed Phase 3 Interventional Results available

Evaluate the Efficacy and Safety of Evinacumab in Pediatric Patients With Homozygous Familial Hypercholesterolemia

NCT04233918
View directory record Official record
Conditions
Homozygous Familial Hypercholesterolemia
Interventions
Evinacumab
Drug
Lead sponsor
Regeneron Pharmaceuticals
Industry
Eligibility
5 Years to 11 Years
Enrollment
20 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2023
U.S. locations
6
States / cities
Wilmington, Delaware • Boca Raton, Florida • Kansas City, Kansas + 3 more
Source: ClinicalTrials.gov public record
Updated Jul 16, 2024 · Synced Oct 17, 2026, 7:20 AM EDT
Completed Phase 3 Interventional Results available

Clinical Study to Evaluate the Efficacy and Safety of Givinostat in Ambulant Patients With Duchenne Muscular Dystrophy

NCT02851797
View directory record Official record
Conditions
Duchenne Muscular Dystrophy
Interventions
givinostat, placebo
Drug
Lead sponsor
Italfarmaco
Industry
Eligibility
6 Years to 17 Years · Male only
Enrollment
179 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2022
U.S. locations
13
States / cities
Davis, California • San Diego, California • Aurora, Colorado + 10 more
Source: ClinicalTrials.gov public record
Updated Feb 2, 2023 · Synced Oct 17, 2026, 7:20 AM EDT
Not listed Phase 2 Interventional

Evaluating the Effectiveness of a Dichloroacetate in MELAS Syndrome

NCT00068913
View directory record Official record
Conditions
MELAS Syndrome
Interventions
Dichloroacetate
Drug
Lead sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
NIH
Eligibility
6 Years and older
Enrollment
35 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2000
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated Jun 24, 2005 · Synced Oct 17, 2026, 7:20 AM EDT
Completed No phase listed Observational

Ultra-low-dose Chest CT for HHT

NCT04874558
View directory record Official record
Conditions
Hereditary Hemorrhagic Telangiectasia
Interventions
Ultra-low dose chest CT
Diagnostic Test
Lead sponsor
Mayo Clinic
Other
Eligibility
1 Year to 17 Years
Enrollment
3 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2026
U.S. locations
1
States / cities
Rochester, Minnesota
Source: ClinicalTrials.gov public record
Updated Apr 24, 2026 · Synced Oct 17, 2026, 7:20 AM EDT
Completed Phase 2 Interventional Results available

A Dose-Finding Study of GSK2894512 Cream in Subjects With Atopic Dermatitis (AD)

NCT02564055
View directory record Official record
Conditions
Dermatitis, Atopic
Interventions
GSK2894512 1% Cream, GSK2894512 0.5% Cream, Vehicle cream
Drug
Lead sponsor
GlaxoSmithKline
Industry
Eligibility
12 Years to 65 Years
Enrollment
247 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2017
U.S. locations
36
States / cities
Fort Smith, Arkansas • Fresno, California • Irvine, California + 30 more
Source: ClinicalTrials.gov public record
Updated Nov 20, 2017 · Synced Oct 17, 2026, 7:20 AM EDT