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ClinicalTrials.gov public records Last synced Oct 24, 2026, 1:41 AM EDT

Data is sourced from official ClinicalTrials.gov public API records. Always review the official ClinicalTrials.gov record for the latest information.

Showing 1081–1104 of 8,007 matching trials from the live ClinicalTrials.gov search.
Filters: Condition: Genetics/Birth Defects Clear all
Enrolling by invitation Not applicable Interventional Accepts healthy volunteers

Rapid Whole Genome Sequencing Study

NCT03385876
View directory record Official record
Conditions
Genetic Diseases, Genetic Syndrome
Interventions
Genomic sequencing and molecular diagnostic results, if any
Genetic
Lead sponsor
Rady Pediatric Genomics & Systems Medicine Institute
Other
Eligibility
Not listed
Enrollment
100,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2017 – 2050
U.S. locations
1
States / cities
San Diego, California
Source: ClinicalTrials.gov public record
Updated Dec 23, 2021 · Synced Oct 24, 2026, 1:41 AM EDT
Not listed No phase listed Observational

Validation of Saliva in the Esoterix Genetic Laboratories Fragile X Assay

NCT01616589
View directory record Official record
Conditions
Fragile X Syndrome
Interventions
Not listed
Lead sponsor
Esoterix Genetic Laboratories, LLC
Industry
Eligibility
Not listed
Enrollment
100 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012
U.S. locations
1
States / cities
Westborough, Massachusetts
Source: ClinicalTrials.gov public record
Updated Jun 12, 2012 · Synced Oct 24, 2026, 1:41 AM EDT
Withdrawn Not applicable Interventional Accepts healthy volunteers

Study to Examine the Benefits of Fabric Made With Lyocell/Chitosan/Ceramide in the Treatment of Children With Mild to Moderate Eczema

NCT02224950
View directory record Official record
Conditions
Atopic Dermatitis
Interventions
Non-medicated Emollient plus Lyocell/Chitosan Sleeve, Non-medicated Emollient plus Cotton Sleeve, Placebo Sleeve
Device · Other
Lead sponsor
University of Minnesota
Other
Eligibility
3 Months to 5 Years
Healthy volunteers
Accepts healthy volunteers
Timeline
2014 – 2015
U.S. locations
1
States / cities
Minneapolis, Minnesota
Source: ClinicalTrials.gov public record
Updated Mar 24, 2017 · Synced Oct 24, 2026, 1:41 AM EDT
Completed Not applicable Interventional

Quantitative MRI for Patients With Sickle Cell Disease Undergoing Hematopoietic Cell Transplant

NCT03458897
View directory record Official record
Conditions
Sickle Cell Disease
Interventions
serial functional magnetic resonance imaging (MRI)
Diagnostic Test
Lead sponsor
University of Michigan
Other
Eligibility
5 Years and older
Enrollment
7 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2020
U.S. locations
1
States / cities
Ann Arbor, Michigan
Source: ClinicalTrials.gov public record
Updated Nov 13, 2020 · Synced Oct 24, 2026, 1:41 AM EDT
Terminated Phase 3 Interventional Results available

Safety and Efficacy of Apligraf in Nonhealing Wounds of Subjects With Junctional or Dystrophic Epidermolysis Bullosa (EB)

NCT00587223
View directory record Official record
Conditions
Epidermolysis Bullosa, Junctional, Epidermolysis Bullosa Dystrophica
Interventions
Apligraf, Standard dressing regimen
Device · Other
Lead sponsor
Organogenesis
Industry
Eligibility
2 Years to 65 Years
Enrollment
1 participant
Healthy volunteers
Healthy volunteers not accepted
Timeline
2007 – 2008
U.S. locations
5
States / cities
Stanford, California • Miami, Florida • New York, New York + 2 more
Source: ClinicalTrials.gov public record
Updated Jun 29, 2010 · Synced Oct 24, 2026, 1:41 AM EDT
Terminated Phase 2Phase 3 Interventional Results available

T-Cell Depletion and Stem Cell Transplant for Immune Deficiencies and Histiocytic Disorders

NCT00176826
View directory record Official record
Conditions
Hemophagocytic Lymphohistiocytosis, X-Linked Lymphoproliferative Disorders, Chediak-Higashi Syndrome, Griscelli Syndrome, Immunologic Diseases, Langerhans-Cell Histiocytosis, Hematologic Diseases
Interventions
Stem Cell Transplant, Myeloablative conditioning regimen
Procedure · Drug
Lead sponsor
Masonic Cancer Center, University of Minnesota
Other
Eligibility
Up to 55 Years
Enrollment
22 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2000 – 2015
U.S. locations
1
States / cities
Minneapolis, Minnesota
Source: ClinicalTrials.gov public record
Updated Jan 23, 2018 · Synced Oct 24, 2026, 1:41 AM EDT
Completed No phase listed Observational

Apathy in Tourette Syndrome and Changes in Quality of Life

NCT02765178
View directory record Official record
Conditions
Tourette Syndrome, Apathy
Interventions
Children's Motivation Scale, Yale Global Tic Severity Scale (YGTSS), Studies Depression Scale for Children (CES-DC), Gilles de la Tourette Syndrome Quality Of Life scale, Demographic Data
Other
Lead sponsor
University of Florida
Other
Eligibility
12 Years to 16 Years
Enrollment
38 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2017
U.S. locations
1
States / cities
Gainesville, Florida
Source: ClinicalTrials.gov public record
Updated Jul 6, 2017 · Synced Oct 24, 2026, 1:41 AM EDT
Completed Phase 4 Interventional Accepts healthy volunteers Results available

Imaging Cardiac Amyloidosis: A Pilot Study Using F-18 Florbetapir Positron Emission Tomography

NCT01683825
View directory record Official record
Conditions
Cardiac Amyloidosis
Interventions
F-18 florbetapir PET
Drug
Lead sponsor
Brigham and Women's Hospital
Other
Eligibility
18 Years and older
Enrollment
23 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2013 – 2018
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Nov 20, 2025 · Synced Oct 24, 2026, 1:41 AM EDT
Terminated No phase listed Observational Accepts healthy volunteers

Gene Function in Bone Marrow Cells From Patients With Fanconi Anemia and From Healthy Participants

NCT00896740
View directory record Official record
Conditions
Fanconi Anemia
Interventions
microarray analysis, biopsy
Genetic · Procedure
Lead sponsor
OHSU Knight Cancer Institute
Other
Eligibility
1 Year to 55 Years
Enrollment
90 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2002 – 2007
U.S. locations
1
States / cities
Portland, Oregon
Source: ClinicalTrials.gov public record
Updated Dec 4, 2017 · Synced Oct 24, 2026, 1:41 AM EDT
Completed Phase 2 Interventional Results available

Efficacy and Safety of Losmapimod in Subjects With Facioscapulohumeral Muscular Dystrophy (FSHD)

NCT04003974
View directory record Official record
Conditions
Facioscapulohumeral Muscular Dystrophy (FSHD)
Interventions
Losmapimod oral tablet, Placebo oral tablet
Drug
Lead sponsor
Fulcrum Therapeutics
Industry
Eligibility
18 Years to 65 Years
Enrollment
80 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2021
U.S. locations
12
States / cities
Irvine, California • Los Angeles, California • Gainesville, Florida + 9 more
Source: ClinicalTrials.gov public record
Updated Jul 10, 2024 · Synced Oct 24, 2026, 1:41 AM EDT
Not listed Not applicable Interventional

Pilot Study for Use of Dysport in Treatment of Vocal Tics in Patients With Tourette's Syndrome

NCT02187679
View directory record Official record
Conditions
Tourette Syndrome, Chronic Vocal Tic
Interventions
Abobotulinum toxin A
Drug
Lead sponsor
Detroit Clinical Research Center
Other
Eligibility
18 Years to 65 Years
Enrollment
30 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2014
U.S. locations
1
States / cities
Farmington Hills, Michigan
Source: ClinicalTrials.gov public record
Updated Feb 10, 2015 · Synced Oct 24, 2026, 1:41 AM EDT
Completed Phase 2Phase 3 Interventional

Evaluating the Effects of Tasimelteon vs Placebo on Sleep Disturbances in SMS

NCT02231008
View directory record Official record
Conditions
Smith-Magenis Syndrome, Circadian
Interventions
tasimelteon, placebo
Drug
Lead sponsor
Vanda Pharmaceuticals
Industry
Eligibility
3 Years to 65 Years
Enrollment
49 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2022
U.S. locations
4
States / cities
Santa Monica, California • Baltimore, Maryland • Chevy Chase, Maryland + 1 more
Source: ClinicalTrials.gov public record
Updated Nov 18, 2022 · Synced Oct 24, 2026, 1:41 AM EDT
Recruiting Phase 2 Interventional

Safety, Tolerability, Pharmacokinetics, and Preliminary Efficacy of SPL84 in Patients With Cystic Fibrosis

NCT06429176
View directory record Official record
Conditions
Cystic Fibrosis
Interventions
SPL84, Placebo
Drug · Other
Lead sponsor
SpliSense Ltd.
Industry
Eligibility
18 Years and older
Enrollment
64 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2027
U.S. locations
3
States / cities
Los Angeles, California • Denver, Colorado • Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated May 14, 2026 · Synced Oct 24, 2026, 1:41 AM EDT
Terminated Phase 2 Interventional Results available

A Study of Bermekimab for the Treatment of Adult Participants With Moderate-to-Severe Atopic Dermatitis

NCT04990440
View directory record Official record
Conditions
Dermatitis, Atopic
Interventions
Bermekimab, Placebo
Drug
Lead sponsor
Janssen Research & Development, LLC
Industry
Eligibility
18 Years to 65 Years
Enrollment
6 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2022
U.S. locations
6
States / cities
Indianapolis, Indiana • Chesterfield, Michigan • Tulsa, Oklahoma + 2 more
Source: ClinicalTrials.gov public record
Updated May 24, 2023 · Synced Oct 24, 2026, 1:41 AM EDT
Recruiting No phase listed Observational

Verifying Antibodies After Live Immunization Delivery (VALID): A Study of Measles Vaccine Immunogenicity in Children With Sickle Cell Disease

NCT07356050
View directory record Official record
Conditions
Sickle Cell Disease, Measles Vaccination, Sickle Cell Anemia
Interventions
Not listed
Lead sponsor
Children's Hospital Medical Center, Cincinnati
Other
Eligibility
6 Months to 6 Years
Enrollment
130 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2028
U.S. locations
1
States / cities
Cincinnati, Ohio
Source: ClinicalTrials.gov public record
Updated Jan 21, 2026 · Synced Oct 24, 2026, 1:41 AM EDT
Recruiting No phase listed Observational

Utility of PCD Diagnostics to Improve Clinical Care

NCT05889013
View directory record Official record
Conditions
Primary Ciliary Dyskinesia
Interventions
Nasal Nitric Oxide testing
Device
Lead sponsor
Connecticut Children's Medical Center
Other
Eligibility
2 Years and older
Enrollment
50 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2028
U.S. locations
1
States / cities
Hartford, Connecticut
Source: ClinicalTrials.gov public record
Updated Oct 5, 2026 · Synced Oct 24, 2026, 1:41 AM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Microphthalmia, Anophthalmia, and Coloboma Genetic Epidemiology in Children

NCT06293560
View directory record Official record
Conditions
Microphthalmia, Coloboma, Anophthalmia
Interventions
Not listed
Lead sponsor
Baylor College of Medicine
Other
Eligibility
Not listed
Enrollment
3,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2022 – 2027
U.S. locations
1
States / cities
Houston, Texas
Source: ClinicalTrials.gov public record
Updated May 6, 2026 · Synced Oct 24, 2026, 1:41 AM EDT
Active, not recruiting Phase 3 Interventional

A Novel, Regulated Gene Therapy (NGN-401) Study for Females With Rett Syndrome

NCT05898620
View directory record Official record
Conditions
Rett Syndrome
Interventions
NGN-401
Genetic
Lead sponsor
Neurogene Inc.
Industry
Eligibility
3 Years and older · Female only
Enrollment
33 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2029
U.S. locations
13
States / cities
Birmingham, Alabama • Oakland, California • Aurora, Colorado + 10 more
Source: ClinicalTrials.gov public record
Updated Jun 10, 2026 · Synced Oct 24, 2026, 1:41 AM EDT
Completed Phase 1 Interventional

A Safety, Pharmacokinetic, Single Ascending Dose Study of Tesevatinib in Pediatric Subjects With Autosomal Recessive Polycystic Kidney Disease (ARPKD)

NCT03096080
View directory record Official record
Conditions
Polycystic Kidney, Autosomal Recessive
Interventions
Tesevatinib
Drug
Lead sponsor
Kadmon Corporation, LLC
Industry
Eligibility
5 Years to 12 Years
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2019
U.S. locations
2
States / cities
Philadelphia, Pennsylvania • Milwaukee, Wisconsin
Source: ClinicalTrials.gov public record
Updated May 11, 2022 · Synced Oct 24, 2026, 1:41 AM EDT
Not listed No phase listed Observational Accepts healthy volunteers

Biomarker Analysis for GBA Associated Parkinson's Disease

NCT03811496
View directory record Official record
Conditions
Parkinson Disease, Gaucher Disease
Interventions
Not listed
Lead sponsor
Lysosomal and Rare Disorders Research and Treatment Center, Inc.
Other
Eligibility
50 Years and older
Enrollment
100 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2018 – 2020
U.S. locations
1
States / cities
Fairfax, Virginia
Source: ClinicalTrials.gov public record
Updated Jan 23, 2019 · Synced Oct 24, 2026, 1:41 AM EDT
Completed Phase 1 Interventional

Bone Marrow Transplant With Abatacept for Non-Malignant Diseases

NCT01917708
View directory record Official record
Conditions
Hurler Syndrome, Fanconi Anemia, Glanzmann Thrombasthenia, Wiskott-Aldrich Syndrome, Chronic Granulomatous Disease, Severe Congenital Neutropenia, Leukocyte Adhesion Deficiency, Shwachman-Diamond Syndrome, Diamond-Blackfan Anemia, Dyskeratosis-congenita, Chediak-Higashi Syndrome, Severe Aplastic Anemia, Thalassemia Major, Hemophagocytic Lymphohistiocytosis, Sickle Cell Disease
Interventions
Abatacept
Drug
Lead sponsor
Emory University
Other
Eligibility
Up to 21 Years
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2019
U.S. locations
1
States / cities
Atlanta, Georgia
Source: ClinicalTrials.gov public record
Updated Dec 26, 2019 · Synced Oct 24, 2026, 1:41 AM EDT
Completed Not applicable Interventional Accepts healthy volunteers Results available

Pilot Study of Startle-response Test to Assess Transcranial Direct Current Stimulation-induced Modulation of Hyperphagia in Prader-Willi Syndrome

NCT01863017
View directory record Official record
Conditions
Hyperphagia, Prader-Willi Syndrome
Interventions
tDCS
Device
Lead sponsor
University of Kansas Medical Center
Other
Eligibility
18 Years to 64 Years
Enrollment
31 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2013 – 2016
U.S. locations
3
States / cities
Kansas City, Kansas • Boston, Massachusetts • Dousman, Wisconsin
Source: ClinicalTrials.gov public record
Updated Apr 26, 2019 · Synced Oct 24, 2026, 1:41 AM EDT
Not listed No phase listed Observational Accepts healthy volunteers

Assessing the Role of the NLRP3 Inflammasome in Intercritical Gout

NCT04125459
View directory record Official record
Conditions
Gout
Interventions
Joint Biopsy
Procedure
Lead sponsor
Attune Health Research, Inc.
Industry
Eligibility
18 Years and older
Enrollment
8 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2020 – 2024
U.S. locations
1
States / cities
Beverly Hills, California
Source: ClinicalTrials.gov public record
Updated Aug 6, 2024 · Synced Oct 24, 2026, 1:41 AM EDT
Completed Phase 2 Interventional

Studies in Porphyria III: Heme and Tin Mesoporphyrin in Acute Porphyrias

NCT00004396
View directory record Official record
Conditions
Porphyria
Interventions
heme arginate, tin mesoporphyrin
Drug
Lead sponsor
National Center for Research Resources (NCRR)
NIH
Eligibility
18 Years and older
Enrollment
32 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 1997
U.S. locations
2
States / cities
New York, New York • Galveston, Texas
Source: ClinicalTrials.gov public record
Updated Jun 24, 2005 · Synced Oct 24, 2026, 1:41 AM EDT