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ClinicalTrials.gov public records Last synced Oct 29, 2026, 1:38 AM EDT

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Showing 1465–1488 of 8,015 matching trials from the live ClinicalTrials.gov search.
Filters: Condition: Genetics/Birth Defects Clear all
Not listed No phase listed Observational

Cure Cystinosis International Registry

NCT01327807
View directory record Official record
Conditions
Cystinosis, Nephropathic Cystinosis, Renal Fanconi Syndrome
Interventions
Not listed
Lead sponsor
Cystinosis Research Foundation
Other
Eligibility
Not listed
Enrollment
750 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010 – 2022
U.S. locations
1
States / cities
San Diego, California
Source: ClinicalTrials.gov public record
Updated Mar 12, 2014 · Synced Oct 29, 2026, 1:38 AM EDT
Completed Phase 2 Interventional

Effect of CER-001 on Plaque Volume in Homozygous Familial Hypercholesterolemia (HoFH) Subjects

NCT01412034
View directory record Official record
Conditions
Homozygous Familial Hypercholesterolemia
Interventions
CER-001
Drug
Lead sponsor
Cerenis Therapeutics, SA
Industry
Eligibility
12 Years and older
Enrollment
23 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2014
U.S. locations
2
States / cities
Hartford, Connecticut • North Massapequa, New York
Source: ClinicalTrials.gov public record
Updated Aug 18, 2015 · Synced Oct 29, 2026, 1:38 AM EDT
Completed No phase listed Observational

A Multi-center, Longitudinal, Observational Study of Children With Achondroplasia

NCT03875534
View directory record Official record
Conditions
Achondroplasia
Interventions
Not listed
Lead sponsor
Ascendis Pharma A/S
Industry
Eligibility
0 Years to 8 Years
Enrollment
260 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2024
U.S. locations
10
States / cities
Little Rock, Arkansas • Oakland, California • Aurora, Colorado + 7 more
Source: ClinicalTrials.gov public record
Updated Mar 19, 2024 · Synced Oct 29, 2026, 1:38 AM EDT
Not listed No phase listed Observational Accepts healthy volunteers

The Molecular Predisposition to Hereditary Nonpolyposis Colon Cancer (HNPCC)

NCT01447199
View directory record Official record
Conditions
Bladder Cancer, Colorectal Cancer, Endometrial Cancer, Kidney Cancer, Skin Cancer, Uterus Cancer
Interventions
Health and Diet Questionnaire
Behavioral
Lead sponsor
M.D. Anderson Cancer Center
Other
Eligibility
18 Years and older
Enrollment
2,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
1994 – 2020
U.S. locations
1
States / cities
Houston, Texas
Source: ClinicalTrials.gov public record
Updated Jan 7, 2020 · Synced Oct 29, 2026, 1:38 AM EDT
Completed No phase listed Observational Accepts healthy volunteers

SNP-based Microdeletion and Aneuploidy RegisTry (SMART)

NCT02381457
View directory record Official record
Conditions
22q11 Deletion Syndrome, DiGeorge Syndrome, Trisomy 21, Trisomy 18, Trisomy 13, Monosomy X, Sex Chromosome Abnormalities, Cri-du-Chat Syndrome, Angelman Syndrome, Prader-Willi Syndrome, 1p36 Deletion Syndrome
Interventions
Not listed
Lead sponsor
Natera, Inc.
Industry
Eligibility
18 Years to 48 Years · Female only
Enrollment
20,960 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2015 – 2020
U.S. locations
16
States / cities
San Francisco, California • Camden, New Jersey • Mount Laurel, New Jersey + 10 more
Source: ClinicalTrials.gov public record
Updated Jan 29, 2021 · Synced Oct 29, 2026, 1:38 AM EDT
Completed Not applicable Interventional Results available

Sigh Ventilation to Increase Ventilator-Free Days in Victims of Trauma at Risk for Acute Respiratory Distress Syndrome

NCT02582957
View directory record Official record
Conditions
Acute Respiratory Distress Syndrome
Interventions
Sigh breaths
Other
Lead sponsor
University of Minnesota
Other
Eligibility
18 Years to 89 Years
Enrollment
524 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2022
U.S. locations
15
States / cities
Fresno, California • Los Angeles, California • Sacramento, California + 12 more
Source: ClinicalTrials.gov public record
Updated Jun 6, 2024 · Synced Oct 29, 2026, 1:38 AM EDT
Completed Phase 1Phase 2 Interventional Results available

HSCT For Patients With High Risk Hemoglobinopathies Using Reduced Intensity

NCT02435901
View directory record Official record
Conditions
Sickle Cell Disease, Beta Thalassemia-Major
Interventions
alemtuzumab (Campath IH), Fludarabine, Melphalan, Cyclosporine, Mycophenolate mofetil, Tacrolimus, Hematopoietic Stem Cell Transplantation
Drug · Biological
Lead sponsor
Northwell Health
Other
Eligibility
1 Year to 21 Years
Enrollment
29 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2008 – 2019
U.S. locations
1
States / cities
New Hyde Park, New York
Source: ClinicalTrials.gov public record
Updated Aug 24, 2021 · Synced Oct 29, 2026, 1:38 AM EDT
Completed No phase listed Observational Accepts healthy volunteers Results available

A Two-Part Multicenter Prospective Longitudinal Study of CFTR-dependent Disease Profiling in Cystic Fibrosis (PROSPECT)

NCT02477319
View directory record Official record
Conditions
Cystic Fibrosis
Interventions
Observational
Other
Lead sponsor
University of Alabama at Birmingham
Other
Eligibility
12 Years and older
Enrollment
452 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2015 – 2018
U.S. locations
38
States / cities
Birmingham, Alabama • Los Angeles, California • Palo Alto, California + 31 more
Source: ClinicalTrials.gov public record
Updated May 20, 2020 · Synced Oct 29, 2026, 1:38 AM EDT
Completed Phase 2 Interventional Accepts healthy volunteers Results available

Trial to Determine the Therapeutic Benefit of an OTC Cream on Dry, Itchy Skin of Adults and Children With Eczema

NCT02691507
View directory record Official record
Conditions
Atopic Dermatitis
Interventions
EpiCeram Skin Barrier Emulsion, Experimental Product 1% Colloidal Oatmeal Balm
Device · Drug
Lead sponsor
Johnson & Johnson Consumer Inc. (J&JCI)
Industry
Eligibility
12 Years and older
Enrollment
53 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2016
U.S. locations
2
States / cities
Colorado Springs, Colorado • Richardson, Texas
Source: ClinicalTrials.gov public record
Updated Mar 6, 2017 · Synced Oct 29, 2026, 1:38 AM EDT
Active, not recruiting Phase 2 Interventional

A Study to Determine the Long-Term Safety, Tolerability and Biological Activity of SAR421869 in Patients With Usher Syndrome Type 1B

NCT02065011
View directory record Official record
Conditions
Usher's Syndrome
Interventions
Blood draw for the laboratory assessment
Drug
Lead sponsor
Sanofi
Industry
Eligibility
18 Years and older
Enrollment
9 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2031
U.S. locations
1
States / cities
Portland, Oregon
Source: ClinicalTrials.gov public record
Updated Jan 13, 2026 · Synced Oct 29, 2026, 1:38 AM EDT
Completed Phase 1 Interventional

A Phase I Safety, Pharmacokinetics and Pharmacodynamics Study of Recombinant Factor VIIa in Adult Patients With Hemophilia A or B

NCT01708564
View directory record Official record
Conditions
Hemophilia
Interventions
rhFVIIa
Biological
Lead sponsor
rEVO Biologics
Industry
Eligibility
18 Years to 75 Years · Male only
Enrollment
15 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2013
U.S. locations
2
States / cities
Sacramento, California • Chicago, Illinois
Source: ClinicalTrials.gov public record
Updated Jul 30, 2013 · Synced Oct 29, 2026, 1:38 AM EDT
Completed Phase 3 Interventional

Valacyclovir in Preventing Cytomegalovirus Infection in Patients Who Are Undergoing Donor Stem Cell Transplantation

NCT00045292
View directory record Official record
Conditions
Cancer
Interventions
acyclovir, acyclovir sodium, valacyclovir
Drug
Lead sponsor
Fred Hutchinson Cancer Center
Other
Eligibility
12 Years and older
Healthy volunteers
Healthy volunteers not accepted
Timeline
2002 – 2004
U.S. locations
6
States / cities
Duarte, California • Stanford, California • Omaha, Nebraska + 3 more
Source: ClinicalTrials.gov public record
Updated Sep 21, 2010 · Synced Oct 29, 2026, 1:38 AM EDT
Withdrawn Phase 4 Interventional Accepts healthy volunteers

Prophylactic Transfusion In Pregnant in Women With Sickle Cell Disease

NCT06979492
View directory record Official record
Conditions
Sickle Cell Disease, Pregnancy Related
Interventions
Prophylactic Transfusion Intervention group: Transfusion, Control group
Biological · Other
Lead sponsor
Emory University
Other
Eligibility
18 Years and older · Female only
Healthy volunteers
Accepts healthy volunteers
Timeline
2026 – 2028
U.S. locations
1
States / cities
Atlanta, Georgia
Source: ClinicalTrials.gov public record
Updated Oct 19, 2026 · Synced Oct 29, 2026, 1:38 AM EDT
Completed No phase listed Observational Accepts healthy volunteers

Determine Range of Tissue Frataxin Concentrations and Other Potential Biomarkers

NCT05028764
View directory record Official record
Conditions
Friedreich Ataxia, Healthy Volunteers
Interventions
Buccal Swabs, Blood Draws and Skin Punch Biopsy
Diagnostic Test
Lead sponsor
Larimar Therapeutics, Inc.
Industry
Eligibility
18 Years to 50 Years
Enrollment
60 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2021 – 2022
U.S. locations
1
States / cities
Eatontown, New Jersey
Source: ClinicalTrials.gov public record
Updated Feb 24, 2022 · Synced Oct 29, 2026, 1:38 AM EDT
Terminated Phase 1Phase 2 Interventional Results available

A Study to Evaluate Administration of SBT101 Gene Therapy in Adult Patients With Adrenomyeloneuropathy (AMN)

NCT05394064
View directory record Official record
Conditions
AMN, AMN Gene Mutation, X-ALD
Interventions
SBT101 Treatment
Genetic
Lead sponsor
SwanBio Therapeutics, Inc.
Industry
Eligibility
18 Years to 65 Years · Male only
Enrollment
9 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2025
U.S. locations
1
States / cities
Worcester, Massachusetts
Source: ClinicalTrials.gov public record
Updated Aug 26, 2026 · Synced Oct 29, 2026, 1:38 AM EDT
Completed No phase listed Observational Accepts healthy volunteers

Investigating Mucinase Activity in Airway Disease

NCT00596232
View directory record Official record
Conditions
Asthma, Cystic Fibrosis
Interventions
Not listed
Lead sponsor
University of California, San Francisco
Other
Eligibility
18 Years to 70 Years
Enrollment
211 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2003 – 2016
U.S. locations
1
States / cities
San Francisco, California
Source: ClinicalTrials.gov public record
Updated May 2, 2016 · Synced Oct 29, 2026, 1:38 AM EDT
Completed Phase 1 Interventional

Allogeneic Human Umbilical Cord Mesenchymal Stem Cells for a Single Male Patient With Duchenne Muscular Dystrophy (DMD)

NCT02235844
View directory record Official record
Conditions
Duchenne's Muscular Dystrophy
Interventions
Umbilical Cord Mesenchymal Stem Cells
Biological
Lead sponsor
Allergy and Asthma Consultants, Wichita, Kansas
Other
Eligibility
28 Years to 31 Years · Male only
Enrollment
1 participant
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2017
U.S. locations
1
States / cities
Wichita, Kansas
Source: ClinicalTrials.gov public record
Updated Sep 16, 2019 · Synced Oct 29, 2026, 1:38 AM EDT
Completed Phase 1 Interventional

Oxandrolone for the Treatment of Bone Marrow Aplasia in Fanconi Anemia

NCT00243399
View directory record Official record
Conditions
Fanconi Anemia
Interventions
Oxandrolone
Drug
Lead sponsor
Children's Hospital Medical Center, Cincinnati
Other
Eligibility
Not listed
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2004 – 2010
U.S. locations
1
States / cities
Cincinnati, Ohio
Source: ClinicalTrials.gov public record
Updated Jul 15, 2011 · Synced Oct 29, 2026, 1:38 AM EDT
Completed Phase 3 Interventional Results available

Efficacy and Safety of AN2690 Topical Solution to Treat Onychomycosis of the Toenail

NCT01302119
View directory record Official record
Conditions
Onychomycosis of Toenails
Interventions
AN2690 Topical Solution, 5%, Solution Vehicle
Drug
Lead sponsor
Pfizer
Industry
Eligibility
18 Years and older
Enrollment
604 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2013
U.S. locations
26
States / cities
Phoenix, Arizona • Novato, California • Oceanside, California + 22 more
Source: ClinicalTrials.gov public record
Updated Apr 3, 2019 · Synced Oct 29, 2026, 1:38 AM EDT
Completed Phase 3 Interventional Results available

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

NCT00158600
View directory record Official record
Conditions
Pompe Disease (Late-onset), Glycogen Storage Disease Type II (GSD-II), Acid Maltase Deficiency Disease, Glycogenosis 2
Interventions
alglucosidase alfa, Placebo
Biological · Drug
Lead sponsor
Genzyme, a Sanofi Company
Industry
Eligibility
8 Years and older
Enrollment
90 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2005 – 2007
U.S. locations
5
States / cities
Beverly Hills, California • Washington D.C., District of Columbia • St Louis, Missouri + 2 more
Source: ClinicalTrials.gov public record
Updated Apr 28, 2015 · Synced Oct 29, 2026, 1:38 AM EDT
Completed Phase 4 Interventional Results available

Pharmacokinetics of Tedizolid Phosphate in Cystic Fibrosis

NCT02444234
View directory record Official record
Conditions
Cystic Fibrosis
Interventions
Tedizolid PO, Tedizolid IV
Drug
Lead sponsor
University of Southern California
Other
Eligibility
18 Years and older
Enrollment
11 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2017
U.S. locations
1
States / cities
Los Angeles, California
Source: ClinicalTrials.gov public record
Updated Jun 2, 2020 · Synced Oct 29, 2026, 1:38 AM EDT
Terminated Phase 4 Interventional Results available

A Phase 4 Safety and Efficacy Study to Evaluate Lesinurad 200 mg in Participants With Gout and Renal Impairment

NCT03226899
View directory record Official record
Conditions
Gout, Chronic Kidney Disease (CKD)
Interventions
Lesinurad, XOI, Placebo, colchicine, corticosteroids
Drug
Lead sponsor
Ironwood Pharmaceuticals, Inc.
Industry
Eligibility
18 Years to 85 Years
Enrollment
242 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2019
U.S. locations
70
States / cities
Birmingham, Alabama • Tucson, Arizona • Covina, California + 59 more
Source: ClinicalTrials.gov public record
Updated Nov 4, 2021 · Synced Oct 29, 2026, 1:38 AM EDT
Completed Phase 1 Interventional Accepts healthy volunteers

Examining Cognitive Function and Brain Abnormalities in Adults With Sickle Cell Disease - Pilot Intervention Study

NCT00850018
View directory record Official record
Conditions
Anemia, Sickle Cell
Interventions
Monthly blood transfusion regimen, Usual care
Procedure · Behavioral
Lead sponsor
UCSF Benioff Children's Hospital Oakland
Other
Eligibility
21 Years to 55 Years
Enrollment
36 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2004 – 2010
U.S. locations
14
States / cities
Oakland, California • Washington D.C., District of Columbia • Hollywood, Florida + 10 more
Source: ClinicalTrials.gov public record
Updated Feb 15, 2017 · Synced Oct 29, 2026, 1:38 AM EDT
Completed Phase 2 Interventional Results available

A Study of LJPC-401 for the Treatment of Iron Overload in Adult Patients With Hereditary Hemochromatosis

NCT03395704
View directory record Official record
Conditions
Hereditary Hemochromatosis
Interventions
LJPC-401, Placebo
Drug
Lead sponsor
La Jolla Pharmaceutical Company
Industry
Eligibility
18 Years and older
Enrollment
70 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2019
U.S. locations
18
States / cities
North Little Rock, Arkansas • Los Angeles, California • Palo Alto, California + 15 more
Source: ClinicalTrials.gov public record
Updated Jun 9, 2022 · Synced Oct 29, 2026, 1:38 AM EDT