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ClinicalTrials.gov public records Last synced Oct 29, 2026, 10:21 PM EDT

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Showing 169–192 of 233 matching trials from the live ClinicalTrials.gov search.
Filters: Condition: DNA Repair-Deficiency Disorders Clear all
Enrolling by invitation No phase listed Observational

Natural History Study of SCID Disorders

NCT01186913
View directory record Official record
Conditions
Severe Combined Immunodeficiency (SCID), Leaky SCID, Omenn Syndrome, Reticular Dysgenesis, ADA SCID, XSCID
Interventions
Not listed
Lead sponsor
National Institute of Allergy and Infectious Diseases (NIAID)
NIH
Eligibility
Not listed
Enrollment
690 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010 – 2028
U.S. locations
39
States / cities
Birmingham, Alabama • Phoenix, Arizona • Los Angeles, California + 34 more
Source: ClinicalTrials.gov public record
Updated Nov 10, 2020 · Synced Oct 29, 2026, 10:21 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 29, 2026, 10:21 PM EDT
Completed Phase 2Phase 3 Interventional Results available

TBI Dose De-escalation for Fanconi Anemia

NCT00352976
View directory record Official record
Conditions
Fanconi Anemia
Interventions
Cyclophosphamide, Fludarabine, Total Body Irradiation, Bone Marrow Transplantation, Mycophenolate Mofetil, Sirolimus
Drug · Procedure
Lead sponsor
Masonic Cancer Center, University of Minnesota
Other
Eligibility
Not listed
Enrollment
83 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2006 – 2020
U.S. locations
1
States / cities
Minneapolis, Minnesota
Source: ClinicalTrials.gov public record
Updated Nov 24, 2021 · Synced Oct 29, 2026, 10:21 PM EDT
Completed Phase 1Phase 2 Interventional Results available

Gene Transfer for Severe Combined Immunodeficiency, X-linked (SCID-X1) Using a Self-inactivating (SIN) Gammaretroviral Vector

NCT01129544
View directory record Official record
Conditions
Severe Combined Immunodeficiency
Interventions
Gene transfer
Biological
Lead sponsor
David Williams
Other
Eligibility
Male only
Enrollment
8 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010 – 2023
U.S. locations
3
States / cities
Los Angeles, California • Boston, Massachusetts • Cincinnati, Ohio
Source: ClinicalTrials.gov public record
Updated Apr 21, 2026 · Synced Oct 29, 2026, 10:21 PM EDT
Terminated Phase 1Phase 2 Interventional Results available

Study of CB-839 (Telaglenastat) in Combination With Talazoparib in Patients With Solid Tumors

NCT03875313
View directory record Official record
Conditions
Solid Tumor, Clear Cell Renal Cell Carcinoma, TNBC - Triple-Negative Breast Cancer, Colorectal Cancer, CRC, RCC, ccRCC
Interventions
CB-839, Talazoparib
Drug
Lead sponsor
Calithera Biosciences, Inc
Industry
Eligibility
18 Years and older
Enrollment
33 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2020
U.S. locations
9
States / cities
Birmingham, Alabama • Atlanta, Georgia • Iowa City, Iowa + 6 more
Source: ClinicalTrials.gov public record
Updated Feb 17, 2022 · Synced Oct 29, 2026, 10:21 PM EDT
Completed No phase listed Observational

Psychosocial Aspects of Genetic Testing for Hereditary Nonpolyposis Colon Cancer

NCT00341575
View directory record Official record
Conditions
HNPCC, Hereditary Nonpolyposis Colon Cancer
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
18 Years to 82 Years
Enrollment
80 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2005 – 2010
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Jul 2, 2017 · Synced Oct 29, 2026, 10:21 PM EDT
Completed Phase 1 Interventional

Transplantation of Hematopoietic Cells in Children With Severe Combined Immunodeficiency Syndrome

NCT00152100
View directory record Official record
Conditions
Severe Combined Immunodeficiency
Interventions
Stem cell transplant, Filgrastim, Alemtuzumab, Miltenyi CliniMACS
Procedure · Drug · Device
Lead sponsor
St. Jude Children's Research Hospital
Other
Eligibility
Up to 2 Years
Enrollment
4 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2004 – 2007
U.S. locations
1
States / cities
Memphis, Tennessee
Source: ClinicalTrials.gov public record
Updated May 20, 2009 · Synced Oct 29, 2026, 10:21 PM EDT
Completed No phase listed Observational

Gene Transfer Therapy for Severe Combined Immunodeficieny Disease (SCID) Due to Adenosine Deaminase (ADA) Deficiency: A Natural History Study

NCT00001255
View directory record Official record
Conditions
Severe Combined Immunodeficiency
Interventions
ADA PBSC, ADA Umbilical Cord Blood Cells, Transduced Lymphocytes
Drug
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
Not listed
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1990 – 2002
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Mar 4, 2008 · Synced Oct 29, 2026, 10:21 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 29, 2026, 10:21 PM EDT
Recruiting Phase 1Phase 2 Interventional

A Study to Assess the Safety, Tolerability, and Efficacy of NDI-219216 in Patients With Advanced Solid Tumors.

NCT06898450
View directory record Official record
Conditions
Advanced Solid Tumors Cancer, MSI-H Cancer
Interventions
NDI-219216
Drug
Lead sponsor
Nimbus Wadjet, Inc.
Industry
Eligibility
18 Years to 99 Years
Enrollment
134 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2031
U.S. locations
11
States / cities
Los Angeles, California • Chicago, Illinois • Louisville, Kentucky + 8 more
Source: ClinicalTrials.gov public record
Updated May 6, 2026 · Synced Oct 29, 2026, 10:21 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 Oct 29, 2026 · Synced Oct 29, 2026, 10:21 PM EDT
Active, not recruiting Phase 2 Interventional Results available

Eltrombopag for Fanconi Anemia

NCT03206086
View directory record Official record
Conditions
Fanconi Anemia
Interventions
Eltrombopag
Drug
Lead sponsor
National Heart, Lung, and Blood Institute (NHLBI)
NIH
Eligibility
6 Years to 99 Years
Enrollment
25 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2028
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Sep 16, 2026 · Synced Oct 29, 2026, 10:21 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 29, 2026, 10:21 PM EDT
Completed Phase 1 Interventional

Quercetin in Children With Fanconi Anemia; a Pilot Study

NCT01720147
View directory record Official record
Conditions
Fanconi Anemia
Interventions
Quercetin (dietary supplement)
Drug
Lead sponsor
Children's Hospital Medical Center, Cincinnati
Other
Eligibility
Not listed
Enrollment
30 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2021
U.S. locations
1
States / cities
Cincinnati, Ohio
Source: ClinicalTrials.gov public record
Updated Jan 18, 2024 · Synced Oct 29, 2026, 10:21 PM EDT
Terminated Phase 2 Interventional Results available

Nivolumab in Preventing Colon Adenomas in Participants With Lynch Syndrome and a History of Partial Colectomy

NCT03631641
View directory record Official record
Conditions
Colon Adenoma, Colon Carcinoma, Lynch Syndrome, MLH1 Gene Mutation, MSH2 Gene Mutation
Interventions
Nivolumab
Biological
Lead sponsor
John Hays
Other
Eligibility
18 Years and older
Enrollment
3 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2021
U.S. locations
1
States / cities
Columbus, Ohio
Source: ClinicalTrials.gov public record
Updated Jul 1, 2024 · Synced Oct 29, 2026, 10:21 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 29, 2026, 10:21 PM EDT
Completed Not applicable Interventional Accepts healthy volunteers

Trial to Compare eConsent With Standard Consent Among Prospective Biobank Participants

NCT04131062
View directory record Official record
Conditions
Lynch Syndrome
Interventions
Electronic Consent (iPad)
Behavioral
Lead sponsor
Geisinger Clinic
Other
Eligibility
18 Years and older
Enrollment
703 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2019 – 2022
U.S. locations
1
States / cities
Danville, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Dec 27, 2022 · Synced Oct 29, 2026, 10:21 PM EDT
Not yet recruiting No phase listed Observational

Clinical Genetics Branch Eligibility Screening Survey

NCT07005297
View directory record Official record
Conditions
Melanoma, Li-Fraumeni Syndrome, Pulmonary Blastoma, Chordoma, Congenital Bone Marrow Failure Syndromes, Costello Syndrome, Fanconi Anemia, CFC Syndrome (CFCS), Legius Syndrome, RASopathies
Interventions
Not listed
Lead sponsor
National Cancer Institute (NCI)
NIH
Eligibility
1 Year to 99 Years
Enrollment
1,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2036
U.S. locations
1
States / cities
Rockville, Maryland
Source: ClinicalTrials.gov public record
Updated Oct 29, 2026 · Synced Oct 29, 2026, 10:21 PM EDT
Recruiting No phase listed Observational

Willingness to Participate in a Trial Comparing Standard Genetic Counseling Versus Personalized Genetic Counseling

NCT05126810
View directory record Official record
Conditions
Li-Fraumeni Syndrome
Interventions
Questionnaire Administration
Other
Lead sponsor
M.D. Anderson Cancer Center
Other
Eligibility
Not listed
Enrollment
500 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2027
U.S. locations
1
States / cities
Houston, Texas
Source: ClinicalTrials.gov public record
Updated Oct 7, 2026 · Synced Oct 29, 2026, 10:21 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 29, 2026, 10:21 PM EDT
Withdrawn Early Phase 1 Interventional

Breast/Cyclosporin A/TNBC (Triple Negative Breast Cancer)

NCT06246786
View directory record Official record
Conditions
Triple Negative Breast Cancer, DNA Damage Repair Deficiency
Interventions
Cyclosporin A
Drug
Lead sponsor
Virginia G. Kaklamani
Other
Eligibility
18 Years and older
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2025
U.S. locations
1
States / cities
San Antonio, Texas
Source: ClinicalTrials.gov public record
Updated Jul 16, 2025 · Synced Oct 29, 2026, 10:21 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 29, 2026, 10:21 PM EDT
Terminated No phase listed Observational Accepts healthy volunteers

Gene Function in Bone Marrow Cells From Patients With Fanconi Anemia and From Healthy Participants

NCT00896740
View directory record Official record
Conditions
Fanconi Anemia
Interventions
microarray analysis, biopsy
Genetic · Procedure
Lead sponsor
OHSU Knight Cancer Institute
Other
Eligibility
1 Year to 55 Years
Enrollment
90 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2002 – 2007
U.S. locations
1
States / cities
Portland, Oregon
Source: ClinicalTrials.gov public record
Updated Dec 4, 2017 · Synced Oct 29, 2026, 10:21 PM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Li-Fraumeni Syndrome/TP53 Biobank

NCT04367246
View directory record Official record
Conditions
Li-Fraumeni Syndrome, Li-Fraumeni-Like Syndrome
Interventions
No Intervention
Other
Lead sponsor
Abramson Cancer Center at Penn Medicine
Other
Eligibility
Not listed
Enrollment
300 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2019 – 2029
U.S. locations
2
States / cities
Philadelphia, Pennsylvania • Phildelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Sep 4, 2026 · Synced Oct 29, 2026, 10:21 PM EDT