DNA Repair-Deficiency Disorders: Clinical Trials

155 completed, 76 recruiting, 48 unknown, 30 terminated. 87 Not applicable, 86 Phase 2, 62 Phase 1, 17 Phase 3, 7 Early Phase 1.

By phase and status

Phase	Trials	Status
Not applicable	87	Completed 37, Recruiting 15, Unknown 11, Terminated 7, Active not recruiting 6, Enrolling by invitation 4, Withdrawn 4, Not yet recruiting 3
Phase 2	86	Completed 37, Recruiting 18, Terminated 12, Active not recruiting 6, Unknown 6, Not yet recruiting 3, Withdrawn 3, Enrolling by invitation 1
Phase 1	62	Completed 31, Recruiting 9, Terminated 9, Unknown 4, Active not recruiting 3, Withdrawn 3, Not yet recruiting 2, Enrolling by invitation 1
Phase 3	17	Completed 7, Active not recruiting 3, Terminated 3, Unknown 2, Not yet recruiting 1, Recruiting 1
Early Phase 1	7	Completed 5, Not yet recruiting 1, Terminated 1
Phase 4	3	Completed 1, Unknown 1, Withdrawn 1

Follow DNA Repair-Deficiency Disorders: new trials by email Literature Review of DNA Repair-Deficiency Disorders trials Research Report on DNA Repair-Deficiency Disorders

Trials newest first · largest first

Tick up to 5 trials to compare them side by side (eligibility, arms, endpoints, adverse events) in a Literature Matrix.

Trial	Phase	Status	Sponsor	Enrollment	Start	Updated
Prenatal Transplantation for Fetuses With Fanconi Anemia IUHSCT for FA-affected fetuses - Fanconi Anemia, Anemia, Hypoplastic, Congenital	Phase 1 / Phase 2	Not yet recruiting	Agnieszka Czechowicz	12	2028-01-01	2026-06-16
Study Aiming to Test Whether Non-invasive Liquid Biopsies Can Safely Reduce Invasive Surveillance Methods in Lynch Syndrome INVITRO DIAGNOSTIC TESTS AND COLONOSCOPY - Lynch Syndrome	Not applicable	Not yet recruiting	UNICANCER	2000	2026-12-01	2026-08-03
Clinical Genetics Branch Eligibility Screening Survey Melanoma, Li-Fraumeni Syndrome		Not yet recruiting	National Cancer Institute (NCI)	1000	2026-11-02	2026-10-28
Follow-up of the Cohort of Newborns Screened at Birth Using TREC Analysis Data collection - Severe Combined Immunodeficiencies (SCID)		Not yet recruiting	Nantes University Hospital	450	2026-11-01	2026-07-15
25BT056: Basket Study of Viral Cytotoxic T Lymphocytes Virus-Specific Cytotoxic T Lymphocytes (vCTLs) - EBV Viremia, CMV Viremia	Early Phase 1	Not yet recruiting	Children's Hospital of Philadelphia	35	2026-11-01	2026-10-22
Protocol for Non-invasive Gynaecological Surveillance in Lynch Syndrome Lynch Syndrome		Not yet recruiting	University of Edinburgh	1450	2026-10-16	2026-10-22
Safety and Tolerability of Metformin and Naproxen for Cancer Prevention in Fanconi Anemia Metformin, Naproxen Sodium - Fanconi Anemia, Head and Neck Cancer	Phase 1	Recruiting	Rockefeller University	80	2026-10-14	2026-10-28
Preventive Dendritic Cell Vaccination for Lynch Syndrome Carriers Arm A: DC vaccination, Arm B: Placebo vaccination - Lynch Syndrome	Phase 3	Not yet recruiting	Radboud University Medical Center	372	2026-10-01	2026-05-27
Phase 2, Open-Label Study to Evaluate the Safety and Tolerability of Progerinin in Werner Syndrome Progerinin - Werner Syndrome	Phase 2	Recruiting	PRG Science & Technology Co., Ltd.	5	2026-10-01	2026-10-05
Preventive Dendritic Cell Vaccination for Lynch Syndrome DC vaccination - Lynch Syndrome	Phase 1 / Phase 2	Not yet recruiting	Radboud University Medical Center	16	2026-10-01	2026-08-19
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 VVD-133214, Pembrolizumab - Colorectal Adenocarcinoma	Phase 2	Recruiting	Vividion Therapeutics, Inc.	140	2026-09-11	2026-10-21
Biomarkers for Babies and Young Children With Ataxia Telangiectasia Ataxia Telangiectasia		Not yet recruiting	University of Nottingham	56	2026-09-01	2026-07-16
Overcoming Barriers to Uptake of Cascade Screening Let's Talk Genetics Providers, Let's Talk Patients - Lynch Syndrome	Not applicable	Not yet recruiting	UNC Lineberger Comprehensive Cancer Center	20	2026-09-01	2026-08-26
Safety and Efficacy of Mutation-targeted Precision Genetic Therapy for Ataxia-Telangiectasia (A-T) Antisense oligonucleotide targeting the ATM gene - Ataxia Telangiectasia	Phase 1 / Phase 2	Recruiting	Timothy Yu	10	2026-08-01	2026-05-28
MRI as Noninvasive Innovative Approach in Detection and Monitoring of Malignant Oral Lesions in Fanconi Anemia Patients MRIs - Fanconi Anemia		Recruiting	University of Minnesota	80	2026-06-23	2026-07-02
A Web-Based Program (Kindred) to Improve the Understanding of Genetic Cancer Risk and Cancer Genetic Testing in African American Families Discussion, Internet-Based Intervention, Survey Administration - BRCA1-Related Hereditary Breast and Ovarian Cancer Syndrome, BRCA2-Related Hereditary Breast and Ovarian Cancer Syndrome	Not applicable	Not yet recruiting	University of Michigan Rogel Cancer Center	150	2026-06-15	2026-05-19
FANCA Gene Transfer for Fanconi Anemia Using a High-safety, High-efficiency, Self-inactivating Lentiviral Vector Gene-modified autologous stem cells - Fanconi Anemia	Not applicable	Terminated	Shenzhen Geno-Immune Medical Institute	10	2026-06-01	2026-08-24
Periodontal Disease in Patients With Lynch Syndrome periodontal charting for the diagnosis of periodontitis - Lynch Syndrome, Periodontal Disease		Not yet recruiting	Rotundo Roberto	25	2026-06-01	2026-05-22
Impact of Consumption of Ultra-processed Foods in Individuals at High Risk of Cancer educational workshop on nutrition + additional intervention on UPF tool and how to use it - Breast Cancer, Pancreas Cancer	Not applicable	Recruiting	Gustave Roussy, Cancer Campus, Grand Paris	170	2026-05-04	2026-05-08
Hematopoietic Stem Cell Transplantation (HSCT) for Common Variable Immunodeficiency (CVID) and Other Autoimmune Manifestations of Primary Immune Regulatory Disorders (PIRD) Hematopoietic stem cell transplant (HSCT) - Common Variable Immunodeficiency (CVID), Primary Immune Regulatory Disorder	Phase 2	Recruiting	Paul Szabolcs	25	2026-05-04	2026-05-15

Showing 20 of 377. Sign in to see all of them.

Narrower conditions

Colorectal Neoplasms, Hereditary Nonpolyposis (144)  ·  Fanconi Anemia (95)  ·  Severe Combined Immunodeficiency (57)  ·  Ataxia Telangiectasia (42)  ·  Colorectal Neoplasms (39)  ·  Li-Fraumeni Syndrome (24)  ·  Anemia, Aplastic (22)  ·  Endometrial Neoplasms (21)  ·  Colonic Neoplasms (20)  ·  Anemia, Diamond-Blackfan (19)  ·  Anemia, Sickle Cell (16)  ·  Hereditary Breast and Ovarian Cancer Syndrome (16)  ·  Immunologic Deficiency Syndromes (16)  ·  Dyskeratosis Congenita (14)  ·  Myelodysplastic Syndromes (14)

Broader conditions

Nutritional and Metabolic Diseases (377)  ·  Metabolic Diseases (374)  ·  Congenital, Hereditary, and Neonatal Diseases and Abnormalities (371)  ·  Genetic Diseases, Inborn (362)  ·  Neoplasms (196)  ·  Neoplasms by Site (172)  ·  Digestive System Diseases (166)  ·  Neoplastic Syndromes, Hereditary (155)  ·  Gastrointestinal Diseases (153)  ·  Intestinal Diseases (151)  ·  Digestive System Neoplasms (146)  ·  Gastrointestinal Neoplasms (146)  ·  Colonic Diseases (145)  ·  Intestinal Neoplasms (145)

Interventions

Cyclophosphamide (23)  ·  fludarabine (20)  ·  fludarabine phosphate (18)  ·  Busulfan (16)  ·  Antilymphocyte Serum (13)  ·  Filgrastim (13)  ·  Melphalan (11)  ·  Whole-Body Irradiation (11)  ·  Alemtuzumab (10)  ·  Surveys and Questionnaires (10)  ·  Cyclosporine (9)  ·  Granulocyte Colony-Stimulating Factor (9)  ·  Methylprednisolone (9)  ·  Mycophenolic Acid (9)  ·  Stem Cell Transplantation (7)

Sponsors

National Cancer Institute (NCI) (17)  ·  M.D. Anderson Cancer Center (12)  ·  Assistance Publique - Hôpitaux de Paris (11)  ·  National Heart, Lung, and Blood Institute (NHLBI) (9)  ·  University of California, San Francisco (9)  ·  Masonic Cancer Center, University of Minnesota (8)  ·  Children's Hospital Medical Center, Cincinnati (7)  ·  National Human Genome Research Institute (NHGRI) (7)  ·  Johann Wolfgang Goethe University Hospital (6)  ·  St. Jude Children's Research Hospital (6)  ·  Fred Hutchinson Cancer Center (5)  ·  National Institute of Allergy and Infectious Diseases (NIAID) (5)  ·  Dana-Farber Cancer Institute (4)  ·  Emory University (4)  ·  Federal Research Institute of Pediatric Hematology, Oncology and Immunology (4)

Countries

United States (215)  ·  United Kingdom (35)  ·  France (30)  ·  Spain (21)  ·  Italy (20)  ·  Germany (17)  ·  Canada (15)  ·  China (14)  ·  Netherlands (14)  ·  Israel (9)  ·  Belgium (8)  ·  Denmark (8)  ·  Switzerland (8)  ·  Norway (6)  ·  Australia (5)

Top investigators

Stefan Zielen, Prof. Dr. (5)  ·  Paul Szabolcs, MD (4)  ·  Hans-Peter Kiem (3)  ·  Morton J. Cowan, MD (3)  ·  Sharon A Savage, M.D. (3)  ·  Adeline Vanderver, MD (2)  ·  Daniel J. Weisdorf (2)  ·  David Coman, MBBS FRACP (2)  ·  Dirk Thye, MD (2)  ·  Donald B. Kohn, M.D. (2)  ·  Eduardo Vilar-Sanchez (2)  ·  Elie Haddad, MD, PhD (2)  ·  Farid Boulad, MD (2)  ·  George Chen (2)

Results publications

PMID 20004776, PMID 23818196, PMID 24139498, PMID 24290292, PMID 24331379, PMID 25075835, PMID 25824692, PMID 27262745, PMID 27869650, PMID 30193840, PMID 34477998, PMID 35671392, PMID 39642902, PMID 40739200, PMID 41289158, PMID 15951961, PMID 16632260, PMID 16763896, PMID 16934683, PMID 17682000, PMID 18218852, PMID 18723429, PMID 19179314, PMID 19633200, PMID 19652199, PMID 19841031, PMID 20142594, PMID 20181032, PMID 20379742, PMID 20458532, PMID 20733131, PMID 20840664, PMID 21212064, PMID 21725047, PMID 22062356, PMID 22144182, PMID 22184407, PMID 22875082, PMID 22927201, PMID 23254892, PMID 23451840, PMID 23484829, PMID 23825568, PMID 24236946, PMID 24296492, PMID 24484606, PMID 24786393, PMID 24916333, PMID 24918982, PMID 25047061

NIH funding

P30CA015704 (4), 2018 (3), P30CA016672 (3), R01HL081499 (3), 2025 (2), UG1CA242609 (2), 1KL2TR002490-01 (1), 2014 (1), 2016 (1), 2019 (1), K01CA255137 (1), N01CN00034 (1), P01HL036444 (1), P01HL048546 (1), P30CA060553 (1)