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ClinicalTrials.gov public records Last synced Oct 27, 2026, 5:12 PM EDT

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Showing 1–24 of 232 matching trials from the live ClinicalTrials.gov search.
Filters: Condition: DNA Repair-Deficiency Disorders Clear all
Recruiting No phase listed Observational

MRI as Noninvasive Innovative Approach in Detection and Monitoring of Malignant Oral Lesions in Fanconi Anemia Patients

NCT07649031
View directory record Official record
Conditions
Fanconi Anemia
Interventions
MRIs
Diagnostic Test
Lead sponsor
University of Minnesota
Other
Eligibility
18 Years and older
Enrollment
80 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2030
U.S. locations
1
States / cities
Minneapolis, Minnesota
Source: ClinicalTrials.gov public record
Updated Jul 2, 2026 · Synced Oct 27, 2026, 5:12 PM EDT
Withdrawn Phase 2 Interventional

Sirolimus Prophylaxis for aGVHD in TME SCID

NCT02177760
View directory record Official record
Conditions
Severe Combined Immunodeficiency, Transplacental Maternal Engraftment, Stem Cell Transplant
Interventions
Sirolimus
Drug
Lead sponsor
University of California, San Francisco
Other
Eligibility
1 Day to 1 Year
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2015
U.S. locations
1
States / cities
San Francisco, California
Source: ClinicalTrials.gov public record
Updated Dec 3, 2015 · Synced Oct 27, 2026, 5:12 PM EDT
Completed No phase listed Observational

Tissue Sample Collection From Patients With Fanconi Anemia

NCT00899522
View directory record Official record
Conditions
Fanconi Anemia, Unspecified Adult Solid Tumor, Protocol Specific, Unspecified Childhood Solid Tumor, Protocol Specific
Interventions
biologic sample preservation procedure, biopsy
Other · Procedure
Lead sponsor
OHSU Knight Cancer Institute
Other
Eligibility
1 Year to 55 Years
Enrollment
8 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2005 – 2013
U.S. locations
1
States / cities
Portland, Oregon
Source: ClinicalTrials.gov public record
Updated Dec 4, 2017 · Synced Oct 27, 2026, 5:12 PM EDT
Recruiting No phase listed Observational

Men at High Genetic Risk for Prostate Cancer

NCT03805919
View directory record Official record
Conditions
Prostatic Neoplasms
Interventions
Not listed
Lead sponsor
National Cancer Institute (NCI)
NIH
Eligibility
30 Years to 75 Years · Male only
Enrollment
500 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2039
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Oct 16, 2026 · Synced Oct 27, 2026, 5:12 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 27, 2026, 5:12 PM EDT
Not yet recruiting Not applicable Interventional Accepts healthy volunteers

A Web-Based Program (Kindred) to Improve the Understanding of Genetic Cancer Risk and Cancer Genetic Testing in African American Families

NCT07542405
View directory record Official record
Conditions
BRCA1-Related Hereditary Breast and Ovarian Cancer Syndrome, BRCA2-Related Hereditary Breast and Ovarian Cancer Syndrome, Hereditary Neoplastic Syndrome, Lynch Syndrome
Interventions
Discussion, Internet-Based Intervention, Survey Administration, Telephone-Based Intervention
Other · Behavioral
Lead sponsor
University of Michigan Rogel Cancer Center
Other
Eligibility
18 Years and older
Enrollment
150 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2026 – 2028
U.S. locations
1
States / cities
Ann Arbor, Michigan
Source: ClinicalTrials.gov public record
Updated May 19, 2026 · Synced Oct 27, 2026, 5:12 PM EDT
Recruiting Phase 2 Interventional

Hematopoietic Stem Cell Transplantation (HSCT) for Common Variable Immunodeficiency (CVID) and Other Autoimmune Manifestations of Primary Immune Regulatory Disorders (PIRD)

NCT07284641
View directory record Official record
Conditions
Common Variable Immunodeficiency (CVID), Primary Immune Regulatory Disorder, Immune Dysregulation, DiGeorge Syndrome, STAT 1 Gain of Function, STAT 3 Gain of Function, Hypomorphic RAG1 Deficiency, CD40 Ligand Deficiency, Mendelian Susceptibility to Mycobacterial Disease, GATA2 Associated Immunodeficiency, CD40 Deficiency, Hypomorphic RAG2 Deficiency, Immune Dysregulation Polyendocrinopathy Enteropathy X-Linked Syndrome, Omenn Syndrome, Chronic Granulomatous Disease
Interventions
Hematopoietic stem cell transplant (HSCT)
Biological
Lead sponsor
Paul Szabolcs
Other
Eligibility
5 Years to 40 Years
Enrollment
25 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2031
U.S. locations
1
States / cities
Pittsburgh, Pennsylvania
Source: ClinicalTrials.gov public record
Updated May 15, 2026 · Synced Oct 27, 2026, 5:12 PM EDT
Active, not recruiting No phase listed Observational

Multi-Organ Screening Recommendations in Patients With Lynch Syndrome

NCT00582296
View directory record Official record
Conditions
Lynch Syndrome
Interventions
questionnaires, telephone interview, optional blood drawn, questionnaires, telephone interview and optional blood drawn
Behavioral
Lead sponsor
Memorial Sloan Kettering Cancer Center
Other
Eligibility
18 Years and older
Enrollment
1,530 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2004 – 2026
U.S. locations
8
States / cities
Basking Ridge, New Jersey • Middletown, New Jersey • Montvale, New Jersey + 5 more
Source: ClinicalTrials.gov public record
Updated Jan 7, 2026 · Synced Oct 27, 2026, 5:12 PM EDT
Completed Phase 1 Interventional

Gene Transfer Therapy for Severe Combined Immunodeficieny Disease (SCID) Due to Adenosine Deaminase (ADA) Deficiency

NCT00018018
View directory record Official record
Conditions
Severe Combined Immunodeficiency Syndrome
Interventions
CD34+ cells transduced with ADA retrovir
Drug
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
1 Month and older
Enrollment
8 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2001 – 2014
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Dec 12, 2019 · Synced Oct 27, 2026, 5:12 PM EDT
Completed Not applicable Interventional Accepts healthy volunteers Results available

Hematopoietic Stem Cell Transplantation for Treatment of Patients With Fanconi Anemia Lacking a Genotypically Identical Donor, Using Total Body Irradiation, Cyclophosphamide and Fludarabine

NCT00595127
View directory record Official record
Conditions
Fanconi Anemia
Interventions
Cyclophosphamide, Fludarabine, Total body irradiation (TBI)
Drug · Radiation
Lead sponsor
Memorial Sloan Kettering Cancer Center
Other
Eligibility
Not listed
Enrollment
21 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2001 – 2013
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated Aug 10, 2016 · Synced Oct 27, 2026, 5:12 PM EDT
Enrolling by invitation No phase listed Observational Accepts healthy volunteers

Establishing Fibroblast-Derived Cell Lines From Skin Biopsies of Patients With Immunodeficiency or Immunodysregulation Disorders

NCT00895271
View directory record Official record
Conditions
Primary Immunodeficiency, DOCK8, Virus Susceptibility
Interventions
Not listed
Lead sponsor
National Institute of Allergy and Infectious Diseases (NIAID)
NIH
Eligibility
2 Years to 85 Years
Enrollment
200 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
Started 2009
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Oct 27, 2026 · Synced Oct 27, 2026, 5:12 PM EDT
Recruiting Not applicable Interventional Accepts healthy volunteers

Identifying and Caring for Individuals With Inherited Cancer Syndrome

NCT04494945
View directory record Official record
Conditions
BRCA1/2-Associated Hereditary Breast and Ovarian Cancer Syndrome, Breast Ductal Carcinoma In Situ, Hematopoietic and Lymphoid System Neoplasm, Hereditary Neoplastic Syndrome, Lynch Syndrome, Malignant Solid Neoplasm
Interventions
Biospecimen Collection, Genetic Counseling, Genetic Testing, Survey Administration
Procedure · Other
Lead sponsor
OHSU Knight Cancer Institute
Other
Eligibility
18 Years and older
Enrollment
27,500 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2020 – 2027
U.S. locations
2
States / cities
Portland, Oregon
Source: ClinicalTrials.gov public record
Updated Jul 14, 2026 · Synced Oct 27, 2026, 5:12 PM EDT
Active, not recruiting Not applicable Interventional Accepts healthy volunteers

Energy Balance Interventions in Increasing Physical Activity in Breast Cancer Gene Positive Patients, Lynch Syndrome-Positive Patients, CLL Survivors or High-Risk Family Members

NCT02194387
View directory record Official record
Conditions
Body Mass Index 25 or Greater, BRCA1 Gene Mutation, BRCA2 Gene Mutation, Breast Carcinoma, Cancer Survivor, Chronic Lymphocytic Leukemia, Fatigue, Health Status Unknown, Lynch Syndrome, Ovarian Carcinoma, Overweight
Interventions
Dietary Intervention, Internet-Based Intervention, Laboratory Biomarker Analysis, Questionnaire Administration, Telephone-Based Intervention
Dietary Supplement · Other · Behavioral
Lead sponsor
M.D. Anderson Cancer Center
Other
Eligibility
18 Years and older
Enrollment
337 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2014 – 2027
U.S. locations
1
States / cities
Houston, Texas
Source: ClinicalTrials.gov public record
Updated Sep 16, 2026 · Synced Oct 27, 2026, 5:12 PM EDT
Recruiting Phase 2 Interventional

A Study to Evaluate the Efficacy of VVD-133214 in Combination With Pembrolizumab Compared With Pembrolizumab Alone in Participants With Advanced Cancer of the Colon or Rectum

NCT07811193
View directory record Official record
Conditions
Colorectal Adenocarcinoma
Interventions
VVD-133214, Pembrolizumab
Drug
Lead sponsor
Vividion Therapeutics, Inc.
Industry
Eligibility
18 Years and older
Enrollment
140 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2030
U.S. locations
4
States / cities
Tucson, Arizona • Ann Arbor, Michigan • Detroit, Michigan + 1 more
Source: ClinicalTrials.gov public record
Updated Oct 21, 2026 · Synced Oct 27, 2026, 5:12 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 27, 2026, 5:12 PM EDT
Terminated Not applicable Interventional Results available

Alefacept and Allogeneic Hematopoietic Stem Cell Transplantation

NCT01319851
View directory record Official record
Conditions
Thalassemia, Sickle Cell Disease, Glanzmann Thrombasthenia, Wiskott-Aldrich Syndrome, Chronic-granulomatous Disease, Severe Congenital Neutropenia, Leukocyte Adhesion Deficiency, Schwachman-Diamond Syndrome, Diamond-Blackfan Anemia, Fanconi Anemia, Dyskeratosis-congenita, Chediak-Higashi Syndrome, Severe Aplastic Anemia
Interventions
Alefacept
Drug
Lead sponsor
Emory University
Other
Eligibility
Up to 21 Years
Enrollment
3 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010 – 2013
U.S. locations
1
States / cities
Atlanta, Georgia
Source: ClinicalTrials.gov public record
Updated Jul 27, 2017 · Synced Oct 27, 2026, 5:12 PM EDT
Recruiting No phase listed Observational

Prostate Cancer Genetic Risk Evaluation and Screening Study

NCT05129605
View directory record Official record
Conditions
Prostatic Neoplasm, Prostate Cancer, BRCA2 Mutation, BRCA1 Mutation, ATM Gene Mutation, MMR Mutation, Lynch Syndrome, Genetic Predisposition to Disease
Interventions
Prostate cancer screening
Diagnostic Test
Lead sponsor
Massachusetts General Hospital
Other
Eligibility
35 Years to 74 Years · Male only
Enrollment
400 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2040
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Oct 9, 2024 · Synced Oct 27, 2026, 5:12 PM EDT
Active, not recruiting Phase 1 Interventional

Study of HRO761 Alone or in Combination in Cancer Patients With Specific DNA Alterations Called Microsatellite Instability or Mismatch Repair Deficiency.

NCT05838768
View directory record Official record
Conditions
MSIhi or dMMR Advanced Unresectable or Metastatic Solid Tumors, Including Colorectal Cancers
Interventions
HRO761, pembrolizumab, irinotecan
Drug · Biological
Lead sponsor
Novartis Pharmaceuticals
Industry
Eligibility
18 Years to 100 Years
Enrollment
123 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2027
U.S. locations
6
States / cities
Los Angeles, California • San Francisco, California • Boston, Massachusetts + 2 more
Source: ClinicalTrials.gov public record
Updated Oct 21, 2026 · Synced Oct 27, 2026, 5:12 PM EDT
Completed Phase 2 Interventional Results available

MND-ADA Transduction of CD34+ Cells From Children With ADA-SCID

NCT00794508
View directory record Official record
Conditions
Severe Combined Immunodeficiency
Interventions
ADA gene transfer
Biological
Lead sponsor
Donald B. Kohn, M.D.
Other
Eligibility
1 Month to 18 Years
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2008 – 2015
U.S. locations
1
States / cities
Los Angeles, California
Source: ClinicalTrials.gov public record
Updated Apr 23, 2021 · Synced Oct 27, 2026, 5:12 PM EDT
Recruiting Phase 2 Interventional

Regenerative Medicine to Restore Hematopoiesis and Immune Function in Immunodeficiencies and Inherited Bone Marrow Failures

NCT04232085
View directory record Official record
Conditions
Primary Immune Deficiency Disorder, Immune Deficiency Disease, Bone Marrow Failure, Short Telomere Length, Fanconi Anemia, Non Fanconi DNA-DSB Repair Disorder, Hoyeraal-Hreidarsson Syndrome, Dyskeratosis Congenita, Telomere Biology Disorder, Short Telomere Syndrome
Interventions
Alemtuzumab, Fludarabine, Melphalan, Low Dose Total Body Irradiation, Cyclophosphamide, Tacrolimus, Mycophenolate Mofetil
Drug · Radiation
Lead sponsor
Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins
Other
Eligibility
4 Months to 50 Years
Enrollment
27 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2028
U.S. locations
1
States / cities
Baltimore, Maryland
Source: ClinicalTrials.gov public record
Updated Nov 28, 2025 · Synced Oct 27, 2026, 5:12 PM EDT
Completed No phase listed Observational

Examination of Clinical and Laboratory Abnormalities in Patients With Defective DNA Repair: Xeroderma Pigmentosum, Cockayne Syndrome, or Trichothiodystrophy

NCT00001813
View directory record Official record
Conditions
Cockayne Syndrome, Skin Neoplasms, Xeroderma Pigmentosum, Trichothiodystrophy Syndromes, Genodermatosis
Interventions
Not listed
Lead sponsor
National Cancer Institute (NCI)
NIH
Eligibility
6 Weeks to 100 Years
Enrollment
709 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 1999
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Oct 13, 2026 · Synced Oct 27, 2026, 5:12 PM EDT
Completed No phase listed Observational Accepts healthy volunteers

Preliminary Evaluation of Septin9 in Patients With Hereditary Colon Cancer Syndromes

NCT02198092
View directory record Official record
Conditions
Familial Adenomatous Polyposis, Map Syndrome, Lynch Syndrome, Hnpcc, Colorectal Cancer
Interventions
Epi proColon Testing
Other
Lead sponsor
University of Pennsylvania
Other
Eligibility
18 Years and older
Enrollment
24 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2014 – 2019
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Aug 28, 2019 · Synced Oct 27, 2026, 5:12 PM EDT
Recruiting No phase listed Observational

Pancreas Registry and High Risk Registry

NCT02775461
View directory record Official record
Conditions
Pancreas Cancer, Pancreatitis, Chronic Pancreatitis, Pancreatic Cyst, Family History of Pancreas Cancer, Genetic Mutations
Interventions
Not listed
Lead sponsor
Icahn School of Medicine at Mount Sinai
Other
Eligibility
18 Years and older
Enrollment
1,368 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2033
U.S. locations
2
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated Feb 11, 2026 · Synced Oct 27, 2026, 5:12 PM EDT
Completed No phase listed Observational

Screening for Gynecologic Cancers in Hereditary Nonpolyposis Colorectal Cancer (HNPCC) Patients

NCT00508846
View directory record Official record
Conditions
Colon Cancer
Interventions
Questionnaire
Behavioral
Lead sponsor
M.D. Anderson Cancer Center
Other
Eligibility
25 Years and older · Female only
Enrollment
93 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2003 – 2016
U.S. locations
1
States / cities
Houston, Texas
Source: ClinicalTrials.gov public record
Updated Mar 11, 2016 · Synced Oct 27, 2026, 5:12 PM EDT