Independent directory Public ClinicalTrials.gov records United States
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ClinicalTrials.gov public records Last synced Sep 5, 2026, 9:29 AM EDT

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Showing 1–12 of 12 matching trials from the live ClinicalTrials.gov search.
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Conditions
Primary Ciliary Dyskinesia, Primary Immune Deficiency, Kartagener Syndrome
Interventions
Genetic Testing for PCD or PID, Unaffected Family Member Genetic Testing
Diagnostic Test · Other
Lead sponsor
University of North Carolina, Chapel Hill
Other
Eligibility
5 Years to 45 Years
Enrollment
436 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2025
U.S. locations
6
States / cities
Palo Alto, California • Aurora, Colorado • Bethesda, Maryland + 3 more
Conditions
Iron-sulfur Cluster Deficiency, Pulmonary Hypertension, Friedreich Ataxia
Interventions
Right Heart Catheterization, Blood draw
Procedure · Other
Lead sponsor
University of Pittsburgh
Other
Eligibility
18 Years to 60 Years
Enrollment
13 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2023
U.S. locations
1
States / cities
Pittsburgh, Pennsylvania
Conditions
Turner Syndrome
Interventions
Research genetic tests
Genetic
Lead sponsor
The University of Texas Health Science Center, Houston
Other
Eligibility
Female only
Enrollment
200 participants
Timeline
2015 – 2035
U.S. locations
1
States / cities
Houston, Texas
Conditions
Sensorineural Hearing Loss, Cytomegalovirus Infection
Interventions
Not listed
Lead sponsor
National Institute on Deafness and Other Communication Disorders (NIDCD)
NIH
Eligibility
Up to 99 Years
Enrollment
324 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2001
U.S. locations
1
States / cities
Bethesda, Maryland
Not listed No phase listed Observational Accepts healthy volunteers

Charcot-Marie-Tooth Disease (CMT) Infant Scale (INC-6611)

NCT02979145
Conditions
Charcot-Marie-Tooth Disease
Interventions
No intervention involved
Other
Lead sponsor
Sydney Children's Hospitals Network
Other
Eligibility
Up to 4 Years
Enrollment
200 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
Started 2016
U.S. locations
2
States / cities
Iowa City, Iowa • Philadelphia, Pennsylvania
Recruiting No phase listed Observational Accepts healthy volunteers

Diaphragmatic Hernia Research & Exploration, Advancing Molecular Science

NCT00950118
Conditions
Congenital Diaphragmatic Hernia
Interventions
Not listed
Lead sponsor
Columbia University
Other
Eligibility
Not listed
Enrollment
3,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2005 – 2026
U.S. locations
13
States / cities
Chicago, Illinois • Ann Arbor, Michigan • St Louis, Missouri + 9 more
Completed No phase listed Observational Accepts healthy volunteers

Metabolic Screening in Patients With Donnai-Barrow Syndrome

NCT01509287
Conditions
Donnai-Barrow Syndrome
Interventions
Not listed
Lead sponsor
Massachusetts General Hospital
Other
Eligibility
Not listed
Enrollment
78 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2010 – 2022
U.S. locations
1
States / cities
Boston, Massachusetts
Conditions
Williams Syndrome, Supravalvular Aortic Stenosis, Cardiovascular Disease
Interventions
Not listed
Lead sponsor
National Heart, Lung, and Blood Institute (NHLBI)
NIH
Eligibility
1 Day to 85 Years
Enrollment
305 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2025
U.S. locations
3
States / cities
Bethesda, Maryland • St Louis, Missouri • Columbus, Ohio
Conditions
Bone Marrow Failure Syndromes, Erythrocyte Disorder, Leukocyte Disorder, Hemostasis, Blood Coagulation Disorder, Sickle Cell Disease, Dyskeratosis Congenita, Diamond-Blackfan Anemia, Congenital Thrombocytopenia, Severe Congenital Neutropenia, Fanconi Anemia, Myelodysplastic Syndromes, Myeloproliferative Diseases
Interventions
Not listed
Lead sponsor
St. Jude Children's Research Hospital
Other
Eligibility
Not listed
Enrollment
1,716 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2050
U.S. locations
1
States / cities
Memphis, Tennessee
Recruiting No phase listed Observational Accepts healthy volunteers

Clinical and Genetic Studies of Li-Fraumeni Syndrome

NCT01443468
Conditions
Li-Fraumeni Syndrome, Neoplasms, Tp53 Mutations
Interventions
Not listed
Lead sponsor
National Cancer Institute (NCI)
NIH
Eligibility
Not listed
Enrollment
5,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
Started 2012
U.S. locations
2
States / cities
Bethesda, Maryland
Enrolling by invitation No phase listed Observational Accepts healthy volunteers

Imaging Lymphatic Function in Normal Subjects and in Persons With Lymphatic Disorders

NCT00833599
Conditions
Lymphedema, Lymphatic Disorders, Lipedema, Vascular Malformation, Vascular Anomaly, Dercum Disease
Interventions
NIRFLI with ICG
Drug
Lead sponsor
The University of Texas Health Science Center, Houston
Other
Eligibility
3 Months and older
Enrollment
283 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2009 – 2030
U.S. locations
3
States / cities
Houston, Texas • The Woodlands, Texas
Recruiting No phase listed Observational

Genetic Analysis of Keloids

NCT01619553
Conditions
Keloid
Interventions
Not listed
Lead sponsor
UConn Health
Other
Eligibility
Not listed
Enrollment
7,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2030
U.S. locations
1
States / cities
Farmington, Connecticut