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ClinicalTrials.gov public records Last synced Oct 28, 2026, 6:09 PM EDT

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Showing 121–144 of 233 matching trials from the live ClinicalTrials.gov search.
Filters: Condition: DNA Repair-Deficiency Disorders Clear all
Recruiting No phase listed Observational

Li-Fraumeni & TP53 (LiFT UP): Understanding and Progress

NCT04541654
View directory record Official record
Conditions
Li-Fraumeni Syndrome, TP53 Gene Mutation, Hereditary Cancer Syndrome, Clonal Hematopoiesis, Mosaicism
Interventions
Data and Specimen Collection
Genetic
Lead sponsor
Dana-Farber Cancer Institute
Other
Eligibility
Not listed
Enrollment
1,500 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2032
U.S. locations
3
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Mar 27, 2026 · Synced Oct 28, 2026, 6:09 PM EDT
Active, not recruiting Phase 2 Interventional

Acute GVHD Suppression Using Costimulation Blockade to Expand Non-malignant Transplant

NCT03924401
View directory record Official record
Conditions
Graft Versus Host Disease
Interventions
Abatacept
Drug
Lead sponsor
Emory University
Other
Eligibility
Up to 20 Years
Enrollment
30 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2027
U.S. locations
9
States / cities
Birmingham, Alabama • Wilmington, Delaware • Atlanta, Georgia + 6 more
Source: ClinicalTrials.gov public record
Updated Feb 25, 2026 · Synced Oct 28, 2026, 6:09 PM EDT
Terminated Not applicable Interventional

Donor Umbilical Cord Blood Transplant in Treating Patients With Hematologic Cancer

NCT00290628
View directory record Official record
Conditions
Chronic Myeloproliferative Disorders, Diamond-blackfan Anemia, Fanconi Anemia, Graft Versus Host Disease, Leukemia, Lymphoma, Multiple Myeloma and Plasma Cell Neoplasm, Myelodysplastic Syndromes, Myelodysplastic/Myeloproliferative Diseases
Interventions
anti-thymocyte globulin, busulfan, cyclophosphamide, cyclosporine, filgrastim, melphalan, methylprednisolone, mycophenolate mofetil, radiation therapy, umbilical cord blood transplantation
Drug · Procedure
Lead sponsor
Masonic Cancer Center, University of Minnesota
Other
Eligibility
Up to 45 Years
Enrollment
43 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1999 – 2007
U.S. locations
1
States / cities
Minneapolis, Minnesota
Source: ClinicalTrials.gov public record
Updated Nov 29, 2017 · Synced Oct 28, 2026, 6:09 PM EDT
Completed No phase listed Observational Accepts healthy volunteers

Uncertain Genetic Test Results for Lynch Syndrome

NCT01646112
View directory record Official record
Conditions
HNPCC
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
18 Years to 100 Years
Enrollment
27 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2012 – 2016
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Dec 17, 2019 · Synced Oct 28, 2026, 6:09 PM EDT
Completed Phase 1 Interventional

Gene Therapy for the Treatment of Fanconi's Anemia Type C

NCT00001399
View directory record Official record
Conditions
Fanconi's Anemia, Pancytopenia
Interventions
Transduced CD34+ Cells
Drug
Lead sponsor
National Heart, Lung, and Blood Institute (NHLBI)
NIH
Eligibility
5 Years and older
Enrollment
9 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1993 – 2009
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Jul 2, 2017 · Synced Oct 28, 2026, 6:09 PM EDT
Completed No phase listed Observational Accepts healthy volunteers

Genetic Risk: Whether, When, and How to Tell Adolescents

NCT03421327
View directory record Official record
Conditions
Huntington Disease, Hereditary Breast and Ovarian Cancer, Hereditary Cancer, Hereditary Non-polyposis Colon Cancer, Hereditary Non-Polyposis Colorectal Cancer Syndrome
Interventions
Not listed
Lead sponsor
Johns Hopkins University
Other
Eligibility
15 Years and older
Enrollment
85 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2017 – 2018
U.S. locations
1
States / cities
Baltimore, Maryland
Source: ClinicalTrials.gov public record
Updated Feb 7, 2019 · Synced Oct 28, 2026, 6:09 PM EDT
Terminated Phase 2 Interventional Results available

A Study of Patidegib Topical Gel, 2%, for the Reduction of Disease Burden of Persistently Developing Basal Cell Carcinomas in Patients With Non-Gorlin High Frequency BCC

NCT04155190
View directory record Official record
Conditions
Recurrent Basal Cell Carcinoma
Interventions
Patidegib Topical Gel, 2%, Patidegib Topical Gel, Vehicle
Drug
Lead sponsor
Sol-Gel Technologies, Ltd.
Industry
Eligibility
18 Years and older
Enrollment
50 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2021
U.S. locations
14
States / cities
Apple Valley, California • Colton, California • Fremont, California + 11 more
Source: ClinicalTrials.gov public record
Updated Jul 21, 2026 · Synced Oct 28, 2026, 6:09 PM EDT
Not listed No phase listed Observational

Patients Treated for SCID (1968-Present)

NCT01346150
View directory record Official record
Conditions
SCID, ADA-SCID, XSCID, Leaky SCID, Omenn Syndrome, Reticular Dysgenesis
Interventions
Not listed
Lead sponsor
National Institute of Allergy and Infectious Diseases (NIAID)
NIH
Eligibility
Not listed
Enrollment
1,007 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2023
U.S. locations
31
States / cities
Birmingham, Alabama • Los Angeles, California • Palo Alto, California + 26 more
Source: ClinicalTrials.gov public record
Updated Nov 12, 2020 · Synced Oct 28, 2026, 6:09 PM EDT
Completed Not applicable Interventional Accepts healthy volunteers Results available

PeLear CCC: Proyecto Latino Contra Cancer Colorrectal

NCT06426927
View directory record Official record
Conditions
Colorectal Cancer, Rectal Cancer, Colon Cancer, Colon Rectal Cancer, Rectal Neoplasms, Colon Adenocarcinoma, Hereditary Nonpolyposis Colon Cancer
Interventions
Colorectal Cancer Educational Videos in Spanish
Other
Lead sponsor
University of North Carolina, Chapel Hill
Other
Eligibility
18 Years and older
Enrollment
60 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2024 – 2025
U.S. locations
1
States / cities
Chapel Hill, North Carolina
Source: ClinicalTrials.gov public record
Updated Jan 21, 2026 · Synced Oct 28, 2026, 6:09 PM EDT
Completed Not applicable Interventional Accepts healthy volunteers Results available

Cancer Health Assessments Reaching Many

NCT03426878
View directory record Official record
Conditions
Hereditary Cancer Syndrome
Interventions
Modified genetic counseling, Traditional genetic counseling
Other
Lead sponsor
Kaiser Permanente
Other
Eligibility
18 Years to 49 Years
Enrollment
967 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2018 – 2022
U.S. locations
2
States / cities
Denver, Colorado • Portland, Oregon
Source: ClinicalTrials.gov public record
Updated Sep 11, 2025 · Synced Oct 28, 2026, 6:09 PM EDT
Completed Phase 1 Interventional

Naproxen in Preventing DNA Mismatch Repair Deficient Colorectal Cancer in Patients With Lynch Syndrome

NCT02052908
View directory record Official record
Conditions
Lynch Syndrome
Interventions
Laboratory Biomarker Analysis, Naproxen, Placebo Administration
Other · Drug
Lead sponsor
National Cancer Institute (NCI)
NIH
Eligibility
18 Years and older
Enrollment
81 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2021
U.S. locations
4
States / cities
Boston, Massachusetts • Ann Arbor, Michigan • Houston, Texas + 1 more
Source: ClinicalTrials.gov public record
Updated Jan 25, 2021 · Synced Oct 28, 2026, 6:09 PM EDT
Recruiting Not applicable Interventional Accepts healthy volunteers

Role of Acetaldehyde in the Development of Oral Cancer

NCT05973656
View directory record Official record
Conditions
Alcohol-Related Carcinoma, Fanconi Anemia, Oral Cavity Carcinoma
Interventions
Alcohol, Biospecimen Collection, Breath Test
Drug · Procedure
Lead sponsor
Masonic Cancer Center, University of Minnesota
Other
Eligibility
18 Years to 45 Years
Enrollment
170 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2022 – 2027
U.S. locations
1
States / cities
Minneapolis, Minnesota
Source: ClinicalTrials.gov public record
Updated Jul 22, 2026 · Synced Oct 28, 2026, 6:09 PM EDT
Not listed No phase listed Observational Accepts healthy volunteers

A Social Media Approach to Improve Genetic Risk Communication Phase I

NCT01645904
View directory record Official record
Conditions
Hereditary Diseases
Interventions
Audiotaped Focus Group, Demographic Questionnaire, Audiotaped Interview, WAMMI Inventory
Behavioral
Lead sponsor
M.D. Anderson Cancer Center
Other
Eligibility
18 Years and older
Enrollment
49 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2013 – 2021
U.S. locations
1
States / cities
Houston, Texas
Source: ClinicalTrials.gov public record
Updated May 28, 2019 · Synced Oct 28, 2026, 6:09 PM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Integrated Cancer Repository for Cancer Research

NCT02012699
View directory record Official record
Conditions
Pancreatic Cancer, Thyroid Cancer, Lung Cancer, Esophageal Cancer, Thymus Cancer, Colon Cancer, Rectal Cancer, Gastrointestinal Stromal Tumors, Anal Cancer, Bile Duct Cancer, Duodenal Cancer, Gallbladder Cancer, Gastric Cancer, Liver Cancer, Small Intestine Cancer, Peritoneal Surface Malignancies, Familial Adenomatous Polyposis, Lynch Syndrome, Bladder Cancer, Kidney Cancer, Penile Cancer, Prostate Cancer, Testicular Cancer, Ureter Cancer, Urethral Cancer, Hypopharyngeal Cancer, Laryngeal Cancer, Lip Cancer, Oral Cavity Cancer, Nasopharyngeal Cancer, Oropharyngeal Cancer, Paranasal Sinus Cancer, Nasal Cavity Cancer, Salivary Gland Cancer, Skin Cancer, Central Nervous System Tumor, Central Nervous System Cancer, Mesothelioma, Breast Cancer, Leukemia, Melanoma, Sarcoma, Unknown Primary Tumor, Multiple Myeloma, Ovarian Cancer, Endometrial Cancer, Vaginal Cancer, Neuroendocrine Tumors, Plasma Cell Dyscrasia, Healthy Control
Interventions
Not listed
Lead sponsor
University of Nebraska
Other
Eligibility
19 Years to 110 Years
Enrollment
999,999 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2013 – 2099
U.S. locations
42
States / cities
Greenwood Village, Colorado • Manchester, Connecticut • Daytona Beach, Florida + 34 more
Source: ClinicalTrials.gov public record
Updated Jun 29, 2026 · Synced Oct 28, 2026, 6:09 PM EDT
Withdrawn Not applicable Interventional

Unrelated HSCT in Patients With Fanconi Anemia

NCT02127905
View directory record Official record
Conditions
Fanconi Anemia
Interventions
CD34+ selected cells
Biological
Lead sponsor
Neena Kapoor, M.D.
Other
Eligibility
8 Weeks to 21 Years
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2016
U.S. locations
1
States / cities
Los Angeles, California
Source: ClinicalTrials.gov public record
Updated Jul 11, 2017 · Synced Oct 28, 2026, 6:09 PM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Clinical and Genetic Studies of Li-Fraumeni Syndrome

NCT01443468
View directory record Official record
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
Source: ClinicalTrials.gov public record
Updated Oct 26, 2026 · Synced Oct 28, 2026, 6:09 PM EDT
Completed Phase 1Phase 2 Interventional Accepts healthy volunteers

IMM 0212: Busulfan With Fludarabine and Antithymocyte Globulin as Preparative Therapy for Hematopoietic Stem Cell Transplant for the Treatment of Severe Congenital T-Cell Immunodeficiency

NCT00228852
View directory record Official record
Conditions
T-Cell Immune Deficiency Diseases, Severe Combined Immunodeficiency
Interventions
Busulfan, Fludarabine and ATG
Drug
Lead sponsor
Emory University
Other
Eligibility
Not listed
Healthy volunteers
Accepts healthy volunteers
Timeline
Ends 2006
U.S. locations
1
States / cities
Atlanta, Georgia
Source: ClinicalTrials.gov public record
Updated Jun 30, 2009 · Synced Oct 28, 2026, 6:09 PM EDT
Recruiting No phase listed Observational

Investigation of the Genetics of Hematologic Diseases

NCT02720679
View directory record Official record
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
Source: ClinicalTrials.gov public record
Updated Jun 9, 2026 · Synced Oct 28, 2026, 6:09 PM EDT
Terminated Phase 1Phase 2 Interventional Results available

RP-3500 and Olaparib in DNA Damage Repair Pathway Deficient Relapsed/Refractory Chronic Lymphocytic Leukemia

NCT05405309
View directory record Official record
Conditions
Chronic Lymphocytic Leukemia
Interventions
RP-3500, Olaparib
Drug
Lead sponsor
University of Utah
Other
Eligibility
18 Years and older
Enrollment
5 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2025
U.S. locations
1
States / cities
Salt Lake City, Utah
Source: ClinicalTrials.gov public record
Updated Jun 3, 2025 · Synced Oct 28, 2026, 6:09 PM EDT
Recruiting No phase listed Observational

Genetic Basis of Immunodeficiency

NCT00055172
View directory record Official record
Conditions
Severe Combined Immunodeficiency
Interventions
Not listed
Lead sponsor
National Heart, Lung, and Blood Institute (NHLBI)
NIH
Eligibility
6 Months to 99 Years
Enrollment
100 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2004
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Sep 28, 2026 · Synced Oct 28, 2026, 6:09 PM EDT
Completed Not applicable Interventional Accepts healthy volunteers

Adherence to Colon Cancer Screening (ACCS)

NCT02112747
View directory record Official record
Conditions
Colon Cancer, Rectal Cancer
Interventions
Patient Navigator
Other
Lead sponsor
Ohio State University Comprehensive Cancer Center
Other
Eligibility
25 Years to 75 Years
Enrollment
1,900 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2013 – 2020
U.S. locations
1
States / cities
Columbus, Ohio
Source: ClinicalTrials.gov public record
Updated Mar 10, 2021 · Synced Oct 28, 2026, 6:09 PM EDT
Recruiting No phase listed Observational

Collecting Blood and Stool Samples to Detect Colorectal Cancer or Advanced Neoplasia in Lynch Syndrome Patients

NCT05410977
View directory record Official record
Conditions
Colorectal Carcinoma, Lynch Syndrome
Interventions
Biospecimen Collection, Electronic Health Record Review
Procedure · Other
Lead sponsor
Mayo Clinic
Other
Eligibility
18 Years and older
Enrollment
950 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2027
U.S. locations
9
States / cities
Scottsdale, Arizona • San Francisco, California • Aurora, Colorado + 5 more
Source: ClinicalTrials.gov public record
Updated Aug 18, 2026 · Synced Oct 28, 2026, 6:09 PM EDT
Completed No phase listed Observational

Developing Newborn Screening for Infants With Primary Immunodeficiency

NCT00113464
View directory record Official record
Conditions
Immune System Diseases
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
Not listed
Enrollment
100 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2005 – 2007
U.S. locations
1
States / cities
New Haven, Connecticut
Source: ClinicalTrials.gov public record
Updated Jul 2, 2017 · Synced Oct 28, 2026, 6:09 PM EDT
Terminated Not applicable Interventional

Implementation of the Families Accelerating Cascade Testing Toolkit (FACTT) for Hereditary Breast and Ovarian Cancer and Lynch Syndrome

NCT04508764
View directory record Official record
Conditions
Hereditary Breast and Ovarian Cancer, Lynch Syndrome
Interventions
Families Accelerating Cascade Testing Toolkit
Other
Lead sponsor
Washington University School of Medicine
Other
Eligibility
18 Years and older
Enrollment
96 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2024
U.S. locations
1
States / cities
St Louis, Missouri
Source: ClinicalTrials.gov public record
Updated Apr 16, 2024 · Synced Oct 28, 2026, 6:09 PM EDT