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ClinicalTrials.gov public records Last synced Oct 22, 2026, 9:59 AM EDT

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Showing 625–648 of 8,007 matching trials from the live ClinicalTrials.gov search.
Filters: Condition: Genetics/Birth Defects Clear all
Terminated No phase listed Observational Results available

Observational Study That Will Collect Information on Patients With Urea Cycle Disorders (UCDs)

NCT01948427
View directory record Official record
Conditions
Urea Cycle Disorder
Interventions
Not listed
Lead sponsor
Amgen
Industry
Eligibility
Not listed
Enrollment
203 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2020
U.S. locations
1
States / cities
Blue Bell, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Jul 1, 2024 · Synced Oct 22, 2026, 9:59 AM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Triple Negative Breast Cancer and Germline Hereditary Breast and Ovarian Cancer Mutation Carrier Registry

NCT02302742
View directory record Official record
Conditions
Breast Cancer, Hereditary Breast and Ovarian Cancer
Interventions
Not listed
Lead sponsor
University of Kansas Medical Center
Other
Eligibility
Not listed
Enrollment
3,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2011 – 2026
U.S. locations
11
States / cities
Hays, Kansas • Kansas City, Kansas • Overland Park, Kansas + 4 more
Source: ClinicalTrials.gov public record
Updated Aug 18, 2026 · Synced Oct 22, 2026, 9:59 AM EDT
Active, not recruiting No phase listed Observational

A Study Providing Genetic Testing to Find Those Who May Have Primary Ciliary Dyskinesia for Potential Clinical Trials

NCT06172374
View directory record Official record
Conditions
Primary Ciliary Dyskinesia
Interventions
Sano Genetics Testing Kit
Genetic
Lead sponsor
ReCode Therapeutics
Industry
Eligibility
18 Years and older
Enrollment
150 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2025
U.S. locations
1
States / cities
Menlo Park, California
Source: ClinicalTrials.gov public record
Updated May 11, 2025 · Synced Oct 22, 2026, 9:59 AM EDT
Recruiting Phase 3 Interventional

The Cancer of the Pancreas Screening-5 CAPS5)Study

NCT02000089
View directory record Official record
Conditions
Pancreas Cancer, Peutz-Jeghers Syndrome (PJS), Gene Mutation, Germline Mutation Carrier, Lynch Syndrome
Interventions
Secretin, MRI, Tumor marker gene test with CA19-9
Drug · Diagnostic Test · Other
Lead sponsor
Johns Hopkins University
Other
Eligibility
18 Years and older
Enrollment
9,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2029
U.S. locations
9
States / cities
New Haven, Connecticut • Baltimore, Maryland • Boston, Massachusetts + 5 more
Source: ClinicalTrials.gov public record
Updated Oct 22, 2026 · Synced Oct 22, 2026, 9:59 AM EDT
Completed Phase 2 Interventional Results available

A Study to Evaluate the Safety, Pharmacokinetics, and Pharmacodynamics of Subcutaneous CINRYZE Administration

NCT01095497
View directory record Official record
Conditions
Hereditary Angioedema
Interventions
CINRYZE
Biological
Lead sponsor
Shire
Industry
Eligibility
12 Years and older
Enrollment
26 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010
U.S. locations
7
States / cities
Scottsdale, Arizona • Walnut Creek, California • Atlanta, Georgia + 4 more
Source: ClinicalTrials.gov public record
Updated Jul 9, 2021 · Synced Oct 22, 2026, 9:59 AM EDT
Terminated Not applicable Interventional

Hypotonia and Neurofibromatosis Type 1 (NF1) Glioma

NCT02584413
View directory record Official record
Conditions
Neurofibromatosis Type 1
Interventions
Magnetic resonance imaging, Gadolinium contrast
Device · Drug
Lead sponsor
Washington University School of Medicine
Other
Eligibility
1 Year to 7 Years
Enrollment
29 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2019
U.S. locations
1
States / cities
St Louis, Missouri
Source: ClinicalTrials.gov public record
Updated Sep 3, 2019 · Synced Oct 22, 2026, 9:59 AM EDT
Not listed Phase 1Phase 2 Interventional

Iron Balance Study of Deferasirox, Deferoxamine and the Combination of Both

NCT00738413
View directory record Official record
Conditions
Thalassemia
Interventions
Deferoxamine, Deferasirox
Drug
Lead sponsor
Weill Medical College of Cornell University
Other
Eligibility
18 Years to 50 Years
Enrollment
6 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2008 – 2009
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated Nov 5, 2010 · Synced Oct 22, 2026, 9:59 AM EDT
Completed Not applicable Interventional Results available

Peer i-Coaching for Activated Self-Management Optimization in Adolescents and Young Adults With Chronic Conditions

NCT03938324
View directory record Official record
Conditions
Sickle Cell Disease, Chronic Kidney Diseases, Systemic Lupus Erythematosus, Childhood Cancer, Inflammatory Bowel Diseases, Stem Cell Transplant, Organ Transplant, Diabetes Mellitus, Type 1, Cystic Fibrosis
Interventions
PiCASO Intervention Group, Sham Comparator: Attention Control Group
Behavioral
Lead sponsor
Duke University
Other
Eligibility
16 Years to 22 Years
Enrollment
222 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2024
U.S. locations
1
States / cities
Durham, North Carolina
Source: ClinicalTrials.gov public record
Updated Jul 17, 2026 · Synced Oct 22, 2026, 9:59 AM EDT
Completed Phase 3 Interventional

A Safety, Tolerability and Pharmacokinetics Study of VRDN-003 in Participants With Thyroid Eye Disease (TED)

NCT07155668
View directory record Official record
Conditions
Thyroid Eye Disease
Interventions
VRDN-003, Autoinjector
Drug · Device
Lead sponsor
Viridian Therapeutics, Inc.
Industry
Eligibility
18 Years to 75 Years
Enrollment
87 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2026
U.S. locations
13
States / cities
Inglewood, California • Cape Coral, Florida • Kissimmee, Florida + 7 more
Source: ClinicalTrials.gov public record
Updated Jun 25, 2026 · Synced Oct 22, 2026, 9:59 AM EDT
Not listed Phase 3 Interventional

Phase 3 Study to Evaluate Intravenous Trappsol(R) Cyclo(TM) in Pediatric and Adult Patients With Niemann-Pick Disease Type C1

NCT04860960
View directory record Official record
Conditions
Niemann-Pick Disease, Type C1
Interventions
Hydroxypropyl-beta-cyclodextrin, Placebo
Drug
Lead sponsor
Cyclo Therapeutics, Inc.
Industry
Eligibility
3 Years and older
Enrollment
94 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2026
U.S. locations
7
States / cities
Oakland, California • Jacksonville, Florida • Atlanta, Georgia + 4 more
Source: ClinicalTrials.gov public record
Updated Jun 4, 2024 · Synced Oct 22, 2026, 9:59 AM EDT
Completed Phase 1 Interventional

Topical BPM31510 3.0% Cream in Patients With Epidermolysis Bullosa

NCT02793960
View directory record Official record
Conditions
Epidermolysis Bullosa
Interventions
topical BPM31510 3.0% Cream
Drug
Lead sponsor
Shasa Hu
Other
Eligibility
12 Years and older
Enrollment
11 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2019
U.S. locations
1
States / cities
Miami, Florida
Source: ClinicalTrials.gov public record
Updated Jun 16, 2020 · Synced Oct 22, 2026, 9:59 AM EDT
Completed Phase 2 Interventional Results available

Trial of Sertraline to Treat Children With Fragile X Syndrome

NCT01474746
View directory record Official record
Conditions
Fragile X Syndrome
Interventions
Sertraline, Placebo
Drug
Lead sponsor
Randi J. Hagerman, MD
Other
Eligibility
24 Months to 68 Months
Enrollment
57 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2015
U.S. locations
1
States / cities
Sacramento, California
Source: ClinicalTrials.gov public record
Updated Sep 25, 2017 · Synced Oct 22, 2026, 9:59 AM EDT
Completed No phase listed Observational

Medical Record Review of Hypohidrotic Ectodermal Dysplasia Clinical Phenotype

NCT01398397
View directory record Official record
Conditions
Hypohidrotic Ectodermal Dysplasia, X-Linked Hypohidrotic Ectodermal Dysplasia
Interventions
Not listed
Lead sponsor
Edimer Pharmaceuticals
Industry
Eligibility
Not listed
Enrollment
11 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2011
U.S. locations
1
States / cities
Cambridge, Massachusetts
Source: ClinicalTrials.gov public record
Updated Jun 28, 2012 · Synced Oct 22, 2026, 9:59 AM EDT
Completed No phase listed Observational Accepts healthy volunteers

Atopic Dermatitis (AD) and Food Allergy

NCT03168113
View directory record Official record
Conditions
Atopic Dermatitis (AD), Non-atopic Healthy Controls
Interventions
Not listed
Lead sponsor
National Institute of Allergy and Infectious Diseases (NIAID)
NIH
Eligibility
4 Years to 17 Years
Enrollment
62 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2017 – 2018
U.S. locations
1
States / cities
Denver, Colorado
Source: ClinicalTrials.gov public record
Updated Feb 28, 2018 · Synced Oct 22, 2026, 9:59 AM EDT
Active, not recruiting No phase listed Observational

Long-Term Safety and Efficacy of Spark-Sponsored Gene Therapies in Males With Hemophilia A

NCT03432520
View directory record Official record
Conditions
Hemophilia A
Interventions
SPK-8011, SPK-8016
Genetic
Lead sponsor
Spark Therapeutics, Inc.
Industry
Eligibility
18 Years and older · Male only
Enrollment
29 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2032
U.S. locations
9
States / cities
Boston, Massachusetts • Madison, Mississippi • Kansas City, Missouri + 5 more
Source: ClinicalTrials.gov public record
Updated Nov 29, 2024 · Synced Oct 22, 2026, 9:59 AM EDT
Recruiting No phase listed Observational

Blood, Urine, and Tissue Collection for Cutaneous Lymphoma, Eczema, and Atopic Dermatitis Research

NCT00177268
View directory record Official record
Conditions
Cutaneous T-cell Lymphoma, Sezary Syndrome, Mycosis Fungoides, Eczema, Atopic Dermatitis
Interventions
Blood draw, skin biopsy or urine collection
Other
Lead sponsor
University of Pittsburgh
Other
Eligibility
18 Years and older
Enrollment
200 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2004 – 2032
U.S. locations
1
States / cities
Pittsburgh, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Dec 30, 2025 · Synced Oct 22, 2026, 9:59 AM EDT
Active, not recruiting Phase 3 Interventional

An Extension Study to Evaluate the Efficacy and Safety of BMN 111 in Children With Achondroplasia

NCT03424018
View directory record Official record
Conditions
Achondroplasia
Interventions
BMN 111
Drug
Lead sponsor
BioMarin Pharmaceutical
Industry
Eligibility
6 Years and older
Enrollment
119 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2031
U.S. locations
11
States / cities
Oakland, California • Torrance, California • Wilmington, Delaware + 8 more
Source: ClinicalTrials.gov public record
Updated Mar 13, 2026 · Synced Oct 22, 2026, 9:59 AM EDT
Completed No phase listed Observational Results available

A Phase 3 Substudy to Evaluate Executive Function in Adults With PKU Who Are Participating in the Phase 3 Study, 165-302

NCT02468570
View directory record Official record
Conditions
Phenylketonuria
Interventions
Administration of CANTAB and Subject Global Assessment
Other
Lead sponsor
BioMarin Pharmaceutical
Industry
Eligibility
18 Years to 70 Years
Enrollment
9 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2017
U.S. locations
4
States / cities
Lexington, Kentucky • Omaha, Nebraska • Oklahoma City, Oklahoma + 1 more
Source: ClinicalTrials.gov public record
Updated Jun 4, 2020 · Synced Oct 22, 2026, 9:59 AM EDT
Completed No phase listed Observational

Healthcare-associated Links in Transmission of Nontuberculous Mycobacteria in Cystic Fibrosis

NCT04024423
View directory record Official record
Conditions
Cystic Fibrosis, Nontuberculous Mycobacterium Infection
Interventions
Epidemiologic investigation
Other
Lead sponsor
National Jewish Health
Other
Eligibility
Not listed
Enrollment
100 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2023
U.S. locations
1
States / cities
Denver, Colorado
Source: ClinicalTrials.gov public record
Updated Dec 4, 2023 · Synced Oct 22, 2026, 9:59 AM EDT
Completed Not applicable Interventional Accepts healthy volunteers

Treatment of Self-Injurious Behavior in Individuals With Prader-Willi Syndrome

NCT00065923
View directory record Official record
Conditions
Prader-Willi Syndrome, Self-Injurious Behavior
Interventions
Topiramate
Drug
Lead sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
NIH
Eligibility
18 Years to 66 Years
Enrollment
10 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
Started 2002
U.S. locations
1
States / cities
Gainesville, Florida
Source: ClinicalTrials.gov public record
Updated May 1, 2013 · Synced Oct 22, 2026, 9:59 AM EDT
Completed Phase 3 Interventional Results available

A Phase 3 Study of VX-121 Combination Therapy in Participants With Cystic Fibrosis (CF) Heterozygous for F508del and a Minimal Function Mutation (F/MF)

NCT05033080
View directory record Official record
Conditions
Cystic Fibrosis
Interventions
VX-121/TEZ/D-IVA, ELX/TEZ/IVA, IVA, Placebo (matched to VX-121/TEZ/D-IVA), Placebo (matched to ELX/TEZ/IVA), Placebo (matched to IVA)
Drug
Lead sponsor
Vertex Pharmaceuticals Incorporated
Industry
Eligibility
12 Years and older
Enrollment
435 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2023
U.S. locations
69
States / cities
Birmingham, Alabama • Tucson, Arizona • Little Rock, Arkansas + 61 more
Source: ClinicalTrials.gov public record
Updated Oct 3, 2024 · Synced Oct 22, 2026, 9:59 AM EDT
Completed Not applicable Interventional Accepts healthy volunteers

Diagnosis of Central Adrenal Insufficiency in Patients With Prader-Willi Syndrome

NCT02368379
View directory record Official record
Conditions
Prader Willi Syndrome, Adrenal Insufficiency
Interventions
Low dose (1 mcg) ACTH stimulation test, Overnight metyrapone test
Other
Lead sponsor
Nationwide Children's Hospital
Other
Eligibility
2 Years and older
Enrollment
23 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2014 – 2016
U.S. locations
1
States / cities
Columbus, Ohio
Source: ClinicalTrials.gov public record
Updated Jan 29, 2018 · Synced Oct 22, 2026, 9:59 AM EDT
Completed No phase listed Observational

A Prospective, Observational Study in Patients With Late-Onset Pompe Disease

NCT00077662
View directory record Official record
Conditions
Glycogen Storage Disease Type II
Interventions
Not listed
Lead sponsor
Genzyme, a Sanofi Company
Industry
Eligibility
8 Years and older
Enrollment
61 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2004 – 2006
U.S. locations
3
States / cities
Washington D.C., District of Columbia • St Louis, Missouri • Seattle, Washington
Source: ClinicalTrials.gov public record
Updated May 5, 2015 · Synced Oct 22, 2026, 9:59 AM EDT
Completed No phase listed Observational Results available

A Natural History of the Progression of Stargardt Disease: Retrospective and Prospective Studies

NCT01977846
View directory record Official record
Conditions
Stargardt Disease
Interventions
Not listed
Lead sponsor
Foundation Fighting Blindness
Other
Eligibility
6 Years and older
Enrollment
259 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2017
U.S. locations
6
States / cities
Baltimore, Maryland • Cleveland, Ohio • Philadelphia, Pennsylvania + 2 more
Source: ClinicalTrials.gov public record
Updated Nov 1, 2019 · Synced Oct 22, 2026, 9:59 AM EDT