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ClinicalTrials.gov public records Last synced Oct 28, 2026, 12:42 AM EDT

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Showing 73–96 of 232 matching trials from the live ClinicalTrials.gov search.
Filters: Condition: DNA Repair-Deficiency Disorders Clear all
Terminated No phase listed Observational

Whole Blood Biospecimen Collection for Subjects With Fanconi Anemia

NCT05910853
View directory record Official record
Conditions
Fanconi Anemia
Interventions
Specimen Donation
Diagnostic Test
Lead sponsor
Sanguine Biosciences
Industry
Eligibility
18 Years to 85 Years
Enrollment
4 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2024
U.S. locations
1
States / cities
Woburn, Massachusetts
Source: ClinicalTrials.gov public record
Updated Apr 18, 2024 · Synced Oct 28, 2026, 12:42 AM EDT
Completed Phase 2 Interventional Results available

A Trial of Niraparib in BAP1 and Other DNA Damage Response (DDR) Deficient Neoplasms (UF-STO-ETI-001)

NCT03207347
View directory record Official record
Conditions
Mesothelioma, Uveal Melanoma, Renal Cell Carcinoma, Cholangiocarcinoma
Interventions
Niraparib
Drug
Lead sponsor
University of Florida
Other
Eligibility
18 Years to 80 Years
Enrollment
37 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2022
U.S. locations
3
States / cities
Gainesville, Florida • Miami, Florida • Orlando, Florida
Source: ClinicalTrials.gov public record
Updated Sep 15, 2023 · Synced Oct 28, 2026, 12:42 AM EDT
Completed No phase listed Observational Accepts healthy volunteers

Research Study in Healthy Volunteers of Patients With Fanconi Anemia, Myeloproliferative Disorders, or Myeloma

NCT00900055
View directory record Official record
Conditions
Chronic Myeloproliferative Disorders, Fanconi Anemia, Multiple Myeloma and Plasma Cell Neoplasm, Myelodysplastic/Myeloproliferative Neoplasms
Interventions
microarray analysis, polyacrylamide gel electrophoresis, polymerase chain reaction, protein expression analysis, reverse transcriptase-polymerase chain reaction, western blotting, chromatography, high performance liquid chromatography, immunoenzyme technique
Genetic · Other
Lead sponsor
OHSU Knight Cancer Institute
Other
Eligibility
1 Year to 55 Years
Enrollment
213 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
1975 – 2016
U.S. locations
1
States / cities
Portland, Oregon
Source: ClinicalTrials.gov public record
Updated Jul 5, 2022 · Synced Oct 28, 2026, 12:42 AM EDT
Not listed No phase listed Observational

Lynch Syndrome Can be Diagnosed Just From Somatic Mismatch Repair Mutation

NCT04516083
View directory record Official record
Conditions
Cancer Gene Mutation, Lynch Syndrome, Endometrial Cancer, Somatic Mutation
Interventions
Mismatch repair instability somatic and germline testing
Diagnostic Test
Lead sponsor
RWJ Barnabas Health at Jersey City Medical Center
Other
Eligibility
Female only
Enrollment
100 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2021
U.S. locations
1
States / cities
Jersey City, New Jersey
Source: ClinicalTrials.gov public record
Updated Aug 18, 2020 · Synced Oct 28, 2026, 12:42 AM 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 28, 2026, 12:42 AM EDT
Active, not recruiting Phase 1Phase 2 Interventional

A Study to Investigate the Safety, Pharmacokinetics, and Preliminary Effectiveness of GSK4418959 Alone or in Combination With Other Anti-cancer Agents in Participants With Solid Tumors

NCT06710847
View directory record Official record
Conditions
Neoplasms, Colorectal, Solid Tumor, Colon Cancer, Rectal Cancer, Endometrial Cancer
Interventions
GSK4418959, PD-1 inhibitor
Drug · Biological
Lead sponsor
GlaxoSmithKline
Industry
Eligibility
18 Years and older
Enrollment
14 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2026
U.S. locations
6
States / cities
Los Angeles, California • Denver, Colorado • Detroit, Michigan + 2 more
Source: ClinicalTrials.gov public record
Updated Feb 2, 2026 · Synced Oct 28, 2026, 12:42 AM EDT
Active, not recruiting Phase 2 Interventional

Adoptive Transfer of Tumor Infiltrating Lymphocytes for Advanced Solid Cancers

NCT03935893
View directory record Official record
Conditions
Gastric Cancer, Colorectal Cancer, Pancreatic Cancer, Sarcoma, Mesothelioma, Neuroendocrine Tumors, Squamous Cell Cancer, Merkel Cell Carcinoma, Mismatch Repair Deficiency, Microsatellite Instability
Interventions
Tumor Infiltrating Lymphocytes (TIL), Fludarabine + Cyclophosphamide combination
Biological · Drug
Lead sponsor
Udai Kammula
Other
Eligibility
18 Years to 75 Years
Enrollment
20 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2038
U.S. locations
1
States / cities
Pittsburgh, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Jun 1, 2026 · Synced Oct 28, 2026, 12:42 AM EDT
Withdrawn Phase 1Phase 2 Interventional

Matched Related and Unrelated Donor Stem Cell Transplantation for Severe Combined Immune Deficiency (SCID): Busulfan-based Conditioning With h-ATG, Radiation, and Sirolimus

NCT04370795
View directory record Official record
Conditions
Severe Combined Immune Deficiency (SCID)
Interventions
Sirolimus, Busulfan, Horse -Anti-thymocyte, G-CSF, Total Body Irradiation (TBI)
Drug · Radiation
Lead sponsor
National Institute of Allergy and Infectious Diseases (NIAID)
NIH
Eligibility
3 Years to 40 Years
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Dec 1, 2025 · Synced Oct 28, 2026, 12:42 AM EDT
Completed No phase listed Observational Results available

LeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for Leukodystrophies

NCT02699190
View directory record Official record
Conditions
Leukodystrophy, White Matter Disease, 4H Syndrome, Adrenoleukodystrophy, AMN, ALD, ALD (Adrenoleukodystrophy), X-linked Adrenoleukodystrophy, X-ALD, Adrenomyeloneuropathy, Aicardi Goutieres Syndrome, AGS, Alexander Disease, Alexanders Leukodystrophy, AxD, ADLD, Canavan Disease, CTX, Cerebrotendinous Xanthomatoses, Krabbe Disease, GALC Deficiency, Globoid Leukodystrophy, TUBB4A-Related Leukodystrophy, H-ABC - Hypomyelination, Atrophy of Basal Ganglia and Cerebellum, HBSL, HBSL - Hypomyelination, Brain Stem, Spinal Cord, Leg Spasticity, LBSL, Leukoencephalopathy With Brain Stem and Spinal Cord Involvement and High Lactate Syndrome (Disorder), Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Lactate Elevation, ALSP, CSF1R Gene Mutation, HCC - Hypomyelination and Congenital Cataract, MLC1, Megalencephalic Leukoencephalopathy With Subcortical Cysts 1, MLD, Metachromatic Leukodystrophy, PMD, Pelizaeus-Merzbacher Disease, PLP1 Null Syndrome, PLP1 Gene Duplication | Blood or Tissue | Mutations, Pelizaeus-Merzbacher-Like Disease, 1, Peroxisomal Biogenesis Disorder, Zellweger Syndrome, Refsum Disease, Salla Disease, Sialic Storage Disease, Sjögren, Sjogren-Larsson Syndrome, Van Der Knapp Disease, Vanishing White Matter Disease, Charcot-Marie-Tooth, CMT, Mct8 (Slc16A2)-Specific Thyroid Hormone Cell Transporter Deficiency, Allan-Herndon-Dudley Syndrome, Cadasil, Cockayne Syndrome, Multiple Sulfatase Deficiency, Gangliosidoses, GM2 Gangliosidosis, BPAN, Labrune Syndrome, LCC, Mucopolysaccharidoses, TBCK-Related Intellectual Disability Syndrome
Interventions
Not listed
Lead sponsor
Children's Hospital of Philadelphia
Other
Eligibility
Up to 18 Years
Enrollment
236 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2024
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Nov 10, 2025 · Synced Oct 28, 2026, 12:42 AM EDT
Completed Not applicable Interventional Accepts healthy volunteers Results available

Overcoming Barriers to the Uptake of Cascade Screening for Lynch Syndrome: Workbook Feasibility Study

NCT04978350
View directory record Official record
Conditions
Lynch Syndrome
Interventions
Educational Workbook
Behavioral
Lead sponsor
UNC Lineberger Comprehensive Cancer Center
Other
Eligibility
18 Years and older
Enrollment
20 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2021 – 2024
U.S. locations
1
States / cities
Chapel Hill, North Carolina
Source: ClinicalTrials.gov public record
Updated Jul 3, 2025 · Synced Oct 28, 2026, 12:42 AM EDT
Not listed Phase 2 Interventional

Umbilical Cord Blood for Stem Cell Transplantation in Treating Young Patients With Malignant or Nonmalignant Diseases

NCT00084695
View directory record Official record
Conditions
Childhood Langerhans Cell Histiocytosis, Fanconi Anemia, Leukemia, Lymphoma, Myelodysplastic Syndromes, Neuroblastoma, Sarcoma, Unspecified Childhood Solid Tumor, Protocol Specific
Interventions
anti-thymocyte globulin, busulfan, cyclophosphamide, fludarabine phosphate, melphalan, methylprednisolone, radiation therapy
Biological · Drug · Radiation
Lead sponsor
Milton S. Hershey Medical Center
Other
Eligibility
Up to 21 Years
Enrollment
25 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2003
U.S. locations
1
States / cities
Hershey, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Jan 10, 2014 · Synced Oct 28, 2026, 12:42 AM EDT
Completed Phase 1 Interventional

A Safety and Tolerability Study of INCAGN02390 in Select Advanced Malignancies

NCT03652077
View directory record Official record
Conditions
Cervical Cancer, Gastric Cancer, Stomach Cancer, Gastroesophageal Junction Cancer, Esophageal Cancer, Hepatocellular Carcinoma, Melanoma, Uveal Melanoma, Merkel Cell Carcinoma, Mesothelioma, MSI, Non-small Cell Lung Cancer, NSCLC, Ovarian Cancer, Squamous Cell Carcinoma of the Head and Neck, Small Cell Lung Cancer, Renal Cell Carcinoma, RCC, Triple-negative Breast Cancer, Urothelial Carcinoma, Mismatch Repair Deficiency
Interventions
INCAGN02390
Drug
Lead sponsor
Incyte Corporation
Industry
Eligibility
18 Years and older
Enrollment
40 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2021
U.S. locations
4
States / cities
Los Angeles, California • Jackson, Mississippi • Hackensack, New Jersey + 1 more
Source: ClinicalTrials.gov public record
Updated Nov 15, 2021 · Synced Oct 28, 2026, 12:42 AM EDT
Completed Not applicable Interventional

Time-restricted Feeding to Reduce Inflammation in Fanconi Anemia

NCT05598515
View directory record Official record
Conditions
Fanconi Anemia
Interventions
Time-Restricted Feeding
Behavioral
Lead sponsor
Children's Hospital Medical Center, Cincinnati
Other
Eligibility
12 Years and older
Enrollment
3 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2023
U.S. locations
1
States / cities
Cincinnati, Ohio
Source: ClinicalTrials.gov public record
Updated Jul 24, 2024 · Synced Oct 28, 2026, 12:42 AM EDT
Completed Phase 2 Interventional Results available

Evaluation of the Tolerability of Switching Subjects on Chronic ATC Opioid Therapy to Buprenorphine HCl Buccal Film

NCT01871285
View directory record Official record
Conditions
Pain
Interventions
Buprenorphine, Placebo film, Oxycodone, Morphine sulfate, Placebo capsule
Drug
Lead sponsor
BioDelivery Sciences International
Industry
Eligibility
18 Years to 60 Years
Enrollment
39 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2014
U.S. locations
3
States / cities
Overland Park, Kansas • Philadelphia, Pennsylvania • Salt Lake City, Utah
Source: ClinicalTrials.gov public record
Updated Feb 27, 2017 · Synced Oct 28, 2026, 12:42 AM EDT
Completed Phase 2 Interventional

Medical Treatment for Diamond Blackfan Anemia

NCT00001749
View directory record Official record
Conditions
Fanconi's Anemia, Hematologic Disease
Interventions
Antithymocyte globulin, Cyclosporine
Drug
Lead sponsor
National Heart, Lung, and Blood Institute (NHLBI)
NIH
Eligibility
Not listed
Enrollment
25 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1998 – 2005
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Mar 4, 2008 · Synced Oct 28, 2026, 12:42 AM EDT
Completed Early Phase 1 Interventional Accepts healthy volunteers Results available

Pediatric Reporting of Adult-Onset Genomic Results

NCT03832985
View directory record Official record
Conditions
Hereditary Breast and Ovarian Cancer Syndrome, Lynch Syndrome, Familial Hypercholesterolemia
Interventions
Child(ren) receive an adult-onset result, Child(ren) received a pediatric-onset result, Control - Negative Result, Adolescents who received adult-onset result, Adolescents who received a pediatric-onset result, Adolescent controls - negative for familial variant
Genetic
Lead sponsor
Geisinger Clinic
Other
Eligibility
Not listed
Enrollment
162 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2020 – 2024
U.S. locations
1
States / cities
Danville, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Apr 9, 2026 · Synced Oct 28, 2026, 12:42 AM 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, 12:42 AM EDT
Completed Phase 2 Interventional Results available

Quercetin Chemoprevention for Squamous Cell Carcinoma in Patients With Fanconi Anemia

NCT03476330
View directory record Official record
Conditions
Fanconi Anemia, Squamous Cell Carcinoma
Interventions
Quercetin (dietary supplement)
Drug
Lead sponsor
Children's Hospital Medical Center, Cincinnati
Other
Eligibility
2 Years and older
Enrollment
48 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2026
U.S. locations
1
States / cities
Cincinnati, Ohio
Source: ClinicalTrials.gov public record
Updated Apr 20, 2026 · Synced Oct 28, 2026, 12:42 AM EDT
Completed Phase 3 Interventional Results available

Evaluate the Neurological Effects of EryDex on Subjects With A-T

NCT06193200
View directory record Official record
Conditions
Ataxia Telangiectasia
Interventions
Dexamethasone sodium phosphate, Placebo
Drug · Other
Lead sponsor
Quince Therapeutics S.p.A.
Industry
Eligibility
6 Years and older
Enrollment
105 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2025
U.S. locations
4
States / cities
Los Angeles, California • Baltimore, Maryland • Cincinnati, Ohio + 1 more
Source: ClinicalTrials.gov public record
Updated Apr 30, 2026 · Synced Oct 28, 2026, 12:42 AM EDT
Completed No phase listed Observational

Hereditary Colorectal and Associated Tumor Registry Study

NCT00633607
View directory record Official record
Conditions
Lynch Syndrome, FAP, Hereditary Diffuse Gastric Cancer, Juvenile Polyposis Syndrome, Peutz-Jeghers Syndrome
Interventions
Research Registry
Other
Lead sponsor
University of Pittsburgh
Other
Eligibility
8 Years to 100 Years
Enrollment
114 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2018
U.S. locations
1
States / cities
Pittsburgh, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Feb 19, 2018 · Synced Oct 28, 2026, 12:42 AM 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 28, 2026, 12:42 AM 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 28, 2026, 12:42 AM 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 28, 2026, 12:42 AM EDT
Terminated Phase 3 Interventional Results available

Open-Label Extension of EryDex Study IEDAT-04-2022

NCT06664853
View directory record Official record
Conditions
Ataxia Telangiectasia
Interventions
Dexamethasone sodium phosphate
Drug
Lead sponsor
Quince Therapeutics S.p.A.
Industry
Eligibility
6 Years and older
Enrollment
101 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2026
U.S. locations
5
States / cities
Los Angeles, California • Baltimore, Maryland • New Brunswick, New Jersey + 2 more
Source: ClinicalTrials.gov public record
Updated May 5, 2026 · Synced Oct 28, 2026, 12:42 AM EDT