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ClinicalTrials.gov public records Last synced Oct 27, 2026, 11:49 PM EDT

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Showing 49–72 of 232 matching trials from the live ClinicalTrials.gov search.
Filters: Condition: DNA Repair-Deficiency Disorders Clear all
Completed No phase listed Observational Accepts healthy volunteers

Role of p53 Gene in Metabolism Regulation in Patients With Li-Fraumeni Syndrome

NCT00406445
View directory record Official record
Conditions
Mitochondrial Disorders, Li-Fraumeni Syndrome, Carriers of p53 Mutation
Interventions
Not listed
Lead sponsor
National Heart, Lung, and Blood Institute (NHLBI)
NIH
Eligibility
18 Years to 100 Years
Enrollment
82 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2007 – 2021
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Nov 22, 2021 · Synced Oct 27, 2026, 11:49 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Withdrawn Not applicable Interventional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 27, 2026, 11:49 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 27, 2026, 11:49 PM EDT
Terminated Phase 1Phase 2 Interventional Results available

Stem Cell Transplantation for Fanconi Anemia

NCT00167206
View directory record Official record
Conditions
Fanconi Anemia
Interventions
Hematopoietic Stem Cell Transplant, Thymic Shielding During Radiation, Total Body Irradiation, Cyclophosphamide, Fludarabine
Procedure · Drug
Lead sponsor
Masonic Cancer Center, University of Minnesota
Other
Eligibility
1 Day to 18 Years
Enrollment
16 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2004 – 2008
U.S. locations
1
States / cities
Minneapolis, Minnesota
Source: ClinicalTrials.gov public record
Updated Aug 26, 2019 · Synced Oct 27, 2026, 11:49 PM EDT
Completed Not applicable Interventional Accepts healthy volunteers Results available

Using Visual Arrays to Support Understanding of Genetic Risk

NCT06994832
View directory record Official record
Conditions
Decision Aid
Interventions
Visual Array, Narrative Visual Array, Choice, Enhanced Choice
Behavioral
Lead sponsor
Stephanie B. Seminara, MD
Other
Eligibility
18 Years and older
Enrollment
1,045 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2025
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Sep 24, 2026 · Synced Oct 27, 2026, 11:49 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 27, 2026, 11:49 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 27, 2026, 11:49 PM EDT
Completed Phase 1 Interventional

A Pilot Study of Metformin in Patients With a Diagnosis of Li-Fraumeni Syndrome

NCT01981525
View directory record Official record
Conditions
Li-Fraumeni Syndrome
Interventions
Metformin
Drug
Lead sponsor
National Cancer Institute (NCI)
NIH
Eligibility
18 Years and older
Enrollment
26 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2020
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Dec 14, 2020 · Synced Oct 27, 2026, 11:49 PM EDT
Active, not recruiting Not applicable Interventional

Screening With Whole Body MRI For Detection Of Primary Tumors In Children And Adults With Li-Fraumeni Syndrome (LFS) And Other Cancer Predisposition Syndromes

NCT02950987
View directory record Official record
Conditions
Li-Fraumeni Syndrome
Interventions
Whole Body MRI
Device
Lead sponsor
Dana-Farber Cancer Institute
Other
Eligibility
Not listed
Enrollment
150 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2027
U.S. locations
3
States / cities
Boston, Massachusetts • New York, New York • Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Jan 7, 2026 · Synced Oct 27, 2026, 11:49 PM EDT
Active, not recruiting No phase listed Observational

Metagenomic Evaluation of the Gut Microbiome in Patients With Lynch Syndrome and Other Hereditary Colonic Polyposis Syndromes

NCT02371135
View directory record Official record
Conditions
Lynch Syndrome, Hereditary Colonic Polyposis Syndromes
Interventions
colonic biopsies, questionnaires
Genetic
Lead sponsor
Memorial Sloan Kettering Cancer Center
Other
Eligibility
18 Years and older
Enrollment
77 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2027
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated Feb 5, 2026 · Synced Oct 27, 2026, 11:49 PM EDT
Not yet recruiting Phase 1Phase 2 Interventional

Prenatal Transplantation for Fetuses With Fanconi Anemia

NCT07408583
View directory record Official record
Conditions
Fanconi Anemia, Anemia, Hypoplastic, Congenital, Congenital Bone Marrow Failure Syndromes, Bone Marrow Failure Disorders, Genetic Diseases, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, DNA Repair-Deficiency Disorders, Cancer Predisposition Syndrome
Interventions
IUHSCT for FA-affected fetuses
Biological
Lead sponsor
Agnieszka Czechowicz
Other
Eligibility
Not listed
Enrollment
12 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2028 – 2033
U.S. locations
2
States / cities
San Francisco, California • Stanford, California
Source: ClinicalTrials.gov public record
Updated Jun 16, 2026 · Synced Oct 27, 2026, 11:49 PM EDT
Completed Phase 2 Interventional

Hematopoietic Stem Cell Transplant for Fanconi Anemia

NCT01071239
View directory record Official record
Conditions
Fanconi Anemia
Interventions
CliniMACs device, Busulfan, Fludarabine, Cyclophosphamide, ATG
Device · Drug
Lead sponsor
Medical College of Wisconsin
Other
Eligibility
Not listed
Enrollment
1 participant
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2016
U.S. locations
1
States / cities
Milwaukee, Wisconsin
Source: ClinicalTrials.gov public record
Updated Sep 11, 2019 · Synced Oct 27, 2026, 11:49 PM EDT
Enrolling by invitation No phase listed Observational

Long-Term Follow-up: Phase I/II Clinical Study to Evaluate the Safety and Efficacy of the Infusion of RP-L102

NCT07527975
View directory record Official record
Conditions
Fanconi Anemia
Interventions
RP-L102
Biological
Lead sponsor
Rocket Pharmaceuticals Inc.
Industry
Eligibility
Not listed
Enrollment
14 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2038
U.S. locations
1
States / cities
Palo Alto, California
Source: ClinicalTrials.gov public record
Updated Apr 14, 2026 · Synced Oct 27, 2026, 11:49 PM EDT
Withdrawn Phase 1 Interventional

Testing the Combination of Two Immunotherapy Drugs (Nivolumab and Ipilimumab) in Children, Adolescent, and Young Adult Patients With Relapsed/Refractory Cancers That Have an Increased Number of Genetic Changes, The 3CI Study

NCT04500548
View directory record Official record
Conditions
Constitutional Mismatch Repair Deficiency Syndrome, Hematopoietic and Lymphoid Cell Neoplasm, Lynch Syndrome, Recurrent Lymphoma, Recurrent Malignant Solid Neoplasm, Recurrent Neuroblastoma, Recurrent Primary Central Nervous System Neoplasm, Refractory Lymphoma, Refractory Malignant Solid Neoplasm, Refractory Neuroblastoma, Refractory Primary Central Nervous System Neoplasm, Xeroderma Pigmentosum
Interventions
Biospecimen Collection, Ipilimumab, Nivolumab
Procedure · Biological
Lead sponsor
National Cancer Institute (NCI)
NIH
Eligibility
12 Months to 25 Years
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2022
U.S. locations
7
States / cities
Palo Alto, California • Aurora, Colorado • St Louis, Missouri + 4 more
Source: ClinicalTrials.gov public record
Updated Jun 10, 2026 · Synced Oct 27, 2026, 11:49 PM EDT
Withdrawn Not applicable Interventional

Pancreatic Cancer Screening of High-Risk Individuals in Arkansas

NCT02309632
View directory record Official record
Conditions
Pancreatic Neoplasms, Peutz-Jegher's Syndrome, BRCA1 Gene Mutation, BRCA2 Gene Mutation, Ataxia Telangiectasia, Familial Atypical Mole-Malignant Melanoma Syndrome, Colorectal Neoplasms, Hereditary Nonpolyposis, Hereditary Pancreatitis
Interventions
Pancreatic Cancer Screening Pathway 1, Pancreatic Cancer Screening Pathway 2
Other
Lead sponsor
University of Arkansas
Other
Eligibility
18 Years to 99 Years
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2019
U.S. locations
1
States / cities
Little Rock, Arkansas
Source: ClinicalTrials.gov public record
Updated Jul 29, 2019 · Synced Oct 27, 2026, 11:49 PM EDT
Completed No phase listed Observational Accepts healthy volunteers

Frequency of Endometrial Cancer Precursors Associated with Lynch Syndrome

NCT05257057
View directory record Official record
Conditions
Lynch Syndrome, Endometrial Cancer, Endometrial Hyperplasia, Mismatch Repair Deficiency, Microsatellite Instability
Interventions
Immunohistochemical staining
Diagnostic Test
Lead sponsor
WellSpan Health
Other
Eligibility
18 Years to 99 Years · Female only
Enrollment
91 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2019 – 2023
U.S. locations
1
States / cities
York, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Mar 28, 2025 · Synced Oct 27, 2026, 11:49 PM EDT
Enrolling by invitation Not applicable Interventional

Strategy for Management of Patients With Hereditary Cancer Syndromes (HCS) in a Rural Environment

NCT07381985
View directory record Official record
Conditions
Hereditary Cancer Syndromes, BRCA1 Hereditary Breast and Ovarian Cancer Syndrome, Lynch Syndrome
Interventions
Longitudinal Cancer Genetics Follow-Up Program
Behavioral
Lead sponsor
University of Vermont Medical Center
Other
Eligibility
18 Years and older
Enrollment
200 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2027
U.S. locations
1
States / cities
Burlington, Vermont
Source: ClinicalTrials.gov public record
Updated Feb 2, 2026 · Synced Oct 27, 2026, 11:49 PM EDT
Completed Not applicable Interventional

Integrating Genetic Testing for Lynch Syndrome in a Managed Care Setting

NCT01582841
View directory record Official record
Conditions
Colon Cancer, Lynch Syndrome
Interventions
MSI screening test
Procedure
Lead sponsor
Kaiser Permanente
Other
Eligibility
18 Years and older
Enrollment
247 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2016
U.S. locations
1
States / cities
Portland, Oregon
Source: ClinicalTrials.gov public record
Updated Aug 31, 2016 · Synced Oct 27, 2026, 11:49 PM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Characterization of Patients With Uncommon Presentations and/or Uncommon Diseases Associated With the Cardiovascular System

NCT01143454
View directory record Official record
Conditions
Metabolic Disease, Obesity, Li-Fraumeni Syndrome, Cardiomyopathy, Atherosclerosis, Inflammatory Disease
Interventions
NSR IDE-MRI: Research pulse sequences
Device
Lead sponsor
National Heart, Lung, and Blood Institute (NHLBI)
NIH
Eligibility
1 Year to 100 Years
Enrollment
5,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
Started 2010
U.S. locations
3
States / cities
Washington D.C., District of Columbia • Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Oct 26, 2026 · Synced Oct 27, 2026, 11:49 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 27, 2026, 11:49 PM EDT
Not listed Phase 1 Interventional

Phase I Study of Amifostine in Patients With Bone Marrow Failure Related to Fanconi's Anemia

NCT00006127
View directory record Official record
Conditions
Fanconi's Anemia
Interventions
amifostine
Drug
Lead sponsor
Dana-Farber Cancer Institute
Other
Eligibility
2 Years and older
Enrollment
21 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2000
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Jun 24, 2005 · Synced Oct 27, 2026, 11:49 PM EDT
Completed Not applicable Interventional

Blood Cell Collection for Future Use in Individuals With Fanconi Anemia

NCT00271089
View directory record Official record
Conditions
Fanconi Anemia
Interventions
PBSC Collection, Bone Marrow Harvest, CliniMacs Cell Selection System
Procedure · Device
Lead sponsor
National Heart, Lung, and Blood Institute (NHLBI)
NIH
Eligibility
1 Year to 35 Years
Enrollment
40 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2004 – 2007
U.S. locations
1
States / cities
Cincinnati, Ohio
Source: ClinicalTrials.gov public record
Updated Jul 12, 2016 · Synced Oct 27, 2026, 11:49 PM EDT
Terminated Phase 1 Interventional

Gene Therapy for Fanconi Anemia

NCT01331018
View directory record Official record
Conditions
Fanconi Anemia
Interventions
Bone Marrow Aspiration, Filgrastim, Genetically Engineered Hematopoietic Stem Progenitor Cells, Laboratory Biomarker Analysis, Leukapheresis, Methylprednisolone, Plerixafor, Prednisone
Procedure · Biological · Other + 1 more
Lead sponsor
Fred Hutchinson Cancer Center
Other
Eligibility
4 Years and older
Enrollment
3 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2024
U.S. locations
1
States / cities
Seattle, Washington
Source: ClinicalTrials.gov public record
Updated May 17, 2024 · Synced Oct 27, 2026, 11:49 PM EDT
Not listed Phase 2 Interventional

Omega 3 Fatty Acids in Colorectal Cancer (CRC) Prevention in Patients With Lynch Syndrome (COLYNE)

NCT03831698
View directory record Official record
Conditions
Colorectal Cancer, Lynch Syndrome
Interventions
Omega-3 fatty acid ethyl esters (2 gram)
Drug
Lead sponsor
University of Kansas Medical Center
Other
Eligibility
18 Years and older
Enrollment
21 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2024
U.S. locations
1
States / cities
Kansas City, Kansas
Source: ClinicalTrials.gov public record
Updated Jun 1, 2023 · Synced Oct 27, 2026, 11:49 PM EDT