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Showing 25–48 of 24 matching trials from the live ClinicalTrials.gov search.
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Completed Phase 1Phase 2 Interventional

Pharmacokinetics and Safety Study of Single and Multiple Oral Doses Prodarsan™ in Patients With Cockayne Syndrome

NCT01142154
View directory record Official record
Conditions
Cockayne Syndrome
Interventions
Prodarsan
Drug
Lead sponsor
DNage B.V.
Industry
Eligibility
2 Years to 10 Years
Enrollment
5 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010 – 2011
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Jun 22, 2011 · Synced Sep 14, 2026, 8:49 PM EDT
Enrolling by invitation No phase listed Observational

An Observational LTFU Study for Patients Previously Treated With Autologous ex Vivo Gene Therapy for ADA-SCID

NCT04049084
View directory record Official record
Conditions
Adenosine Deaminase Deficiency, Severe Combined Immunodeficiency (SCID)
Interventions
autologous ex vivo gene therapy products based on the EFS LV encoding for the human adenosine deaminase (ADA) gene (EFS-ADA LV)
Biological
Lead sponsor
University of California, Los Angeles
Other
Eligibility
Not listed
Enrollment
70 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2040
U.S. locations
1
States / cities
Los Angeles, California
Source: ClinicalTrials.gov public record
Updated Dec 17, 2025 · Synced Sep 14, 2026, 8:49 PM EDT
Completed Phase 3 Interventional Results available

A Study of Rucaparib Versus Physician's Choice of Therapy in Participants With Metastatic Castration-resistant Prostate Cancer and Homologous Recombination Gene Deficiency

NCT02975934
View directory record Official record
Conditions
Metastatic Castration Resistant Prostate Cancer
Interventions
Rucaparib, Abiraterone acetate or Enzalutamide or Docetaxel
Drug
Lead sponsor
pharmaand GmbH
Industry
Eligibility
18 Years and older · Male only
Enrollment
405 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2024
U.S. locations
61
States / cities
Birmingham, Alabama • Phoenix, Arizona • Tucson, Arizona + 46 more
Source: ClinicalTrials.gov public record
Updated Jul 24, 2025 · Synced Sep 14, 2026, 8:49 PM EDT
Terminated Phase 1Phase 2 Interventional Results available

Safety and Efficacy Trial of Danazol in Patients With Fanconi Anemia or Dyskeratosis Congenita

NCT01001598
View directory record Official record
Conditions
Fanconi Anemia, Dyskeratosis Congenita
Interventions
danazol
Drug
Lead sponsor
Boston Children's Hospital
Other
Eligibility
3 Years and older
Enrollment
5 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2014
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Feb 18, 2019 · Synced Sep 14, 2026, 8:49 PM EDT
Active, not recruiting Phase 1 Interventional

Ascending Doses of Ceralasertib in Combination With Chemotherapy and/or Novel Anti Cancer Agents

NCT02264678
View directory record Official record
Conditions
Adv Solid Malig - H&N SCC, ATM Pro / Def NSCLC, Gastric, Breast and Ovarian Cancer
Interventions
Administration of ceralasertib, Administration of ceralasertib in combination with olaparib, Administation of ceralasertib in combination with durvalumab, Administration of ceralasertib monotherapy, Administration of ceralasertib and olaparib, Administration of ceralasertib and durvalumab, Administration of ceralasertib in combination with AZD5305, Administration of ceralasertib in combination with carboplatin
Drug
Lead sponsor
AstraZeneca
Industry
Eligibility
18 Years to 130 Years
Enrollment
358 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2026
U.S. locations
8
States / cities
Duarte, California • Irvine, California • Los Angeles, California + 4 more
Source: ClinicalTrials.gov public record
Updated Jul 23, 2026 · Synced Sep 14, 2026, 8:49 PM EDT
Completed Not applicable Interventional Accepts healthy volunteers

Telemedicine vs. Face-to-Face Cancer Genetic Counseling

NCT00609505
View directory record Official record
Conditions
Hereditary Breast and Ovarian Cancer Syndrome, Lynch Syndrome
Interventions
Telemedicine, Face-to-Face
Other
Lead sponsor
Duke University
Other
Eligibility
18 Years and older
Enrollment
130 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2008 – 2011
U.S. locations
4
States / cities
Henderson, North Carolina • Laurinburg, North Carolina • Lumberton, North Carolina + 1 more
Source: ClinicalTrials.gov public record
Updated Feb 21, 2012 · Synced Sep 14, 2026, 8:49 PM EDT
Active, not recruiting Phase 2 Interventional

Testing a Combination of Vaccines for Cancer Prevention in Lynch Syndrome

NCT05419011
View directory record Official record
Conditions
Colorectal Carcinoma, Colorectal Neoplasm, Lynch Syndrome
Interventions
Adenovirus 5 CEA/MUC1/Brachyury Vaccine Tri-Ad5, Biopsy Procedure, Biospecimen Collection, Colonoscopy, Nogapendekin Alfa, Placebo Administration, Questionnaire Administration
Biological · Procedure · Drug + 1 more
Lead sponsor
National Cancer Institute (NCI)
NIH
Eligibility
18 Years and older
Enrollment
186 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2028
U.S. locations
13
States / cities
Phoenix, Arizona • Tucson, Arizona • San Francisco, California + 10 more
Source: ClinicalTrials.gov public record
Updated Jun 16, 2026 · Synced Sep 14, 2026, 8:49 PM EDT
Completed No phase listed Observational

Clinical, Genetic, Behavioral, Laboratory and Epidemiologic Characterization of Individuals and Families at High Risk of Breast/Ovarian Cancer

NCT00040222
View directory record Official record
Conditions
Familial Ovarian Cancer, Familial Breast Cancer, BRCA1-associate Malignancies, BRCA2-associated Malignancies
Interventions
Not listed
Lead sponsor
National Cancer Institute (NCI)
NIH
Eligibility
18 Years to 100 Years
Enrollment
377 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2002
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Aug 30, 2026 · Synced Sep 14, 2026, 8:49 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 1, 2026 · Synced Sep 14, 2026, 8:49 PM EDT
Recruiting Phase 2 Interventional

HSCT for Patients With Fanconi Anemia Using Risk-Adjusted Chemotherapy

NCT02143830
View directory record Official record
Conditions
Fanconi Anemia, Severe Marrow Failure, Myelodysplastic Syndrome (MDS), Acute Myelogenous Leukemia (AML)
Interventions
Busulfan, Cyclophosphamide, Fludarabine, rabbit ATG, G-CSF, Peripheral blood stem cell
Drug · Biological
Lead sponsor
Children's Hospital Medical Center, Cincinnati
Other
Eligibility
3 Months and older
Enrollment
70 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2028
U.S. locations
3
States / cities
New York, New York • Cincinnati, Ohio • Seattle, Washington
Source: ClinicalTrials.gov public record
Updated Nov 11, 2025 · Synced Sep 14, 2026, 8:49 PM EDT
Terminated Phase 2 Interventional Results available

A Study of Patidegib Topical Gel, 2%, for the Reduction of Disease Burden of Persistently Developing Basal Cell Carcinomas in Patients With Non-Gorlin High Frequency BCC

NCT04155190
View directory record Official record
Conditions
Recurrent Basal Cell Carcinoma
Interventions
Patidegib Topical Gel, 2%, Patidegib Topical Gel, Vehicle
Drug
Lead sponsor
Sol-Gel Technologies, Ltd.
Industry
Eligibility
18 Years and older
Enrollment
50 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2021
U.S. locations
14
States / cities
Apple Valley, California • Colton, California • Fremont, California + 11 more
Source: ClinicalTrials.gov public record
Updated Jul 20, 2026 · Synced Sep 14, 2026, 8:49 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 20, 2026 · Synced Sep 14, 2026, 8:49 PM EDT
Terminated No phase listed Observational

Observational Study to Assess Natural History in Cockayne Syndrome Patients

NCT00985413
View directory record Official record
Conditions
Cockayne Syndrome
Interventions
Not listed
Lead sponsor
DNage B.V.
Industry
Eligibility
1 Year to 11 Years
Enrollment
40 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2011
U.S. locations
2
States / cities
Boston, Massachusetts • New York, New York
Source: ClinicalTrials.gov public record
Updated Jun 22, 2011 · Synced Sep 14, 2026, 8:49 PM EDT
Terminated Phase 2 Interventional Results available

N-Acetyl-L-Leucine for Ataxia-Telangiectasia (A-T)

NCT03759678
View directory record Official record
Conditions
Ataxia Telangiectasia
Interventions
IB1001
Drug
Lead sponsor
IntraBio Inc
Industry
Eligibility
6 Years and older
Enrollment
17 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2025
U.S. locations
1
States / cities
Los Angeles, California
Source: ClinicalTrials.gov public record
Updated Mar 24, 2026 · Synced Sep 14, 2026, 8:49 PM EDT
Recruiting No phase listed Observational

Defining the Natural History of Squamous Cell Carcinoma in Fanconi Anemia

NCT05687149
View directory record Official record
Conditions
Fanconi Anemia, Inherited Bone Marrow Failure Syndrome
Interventions
Not listed
Lead sponsor
National Cancer Institute (NCI)
NIH
Eligibility
8 Years to 90 Years
Enrollment
200 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2035
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Aug 30, 2026 · Synced Sep 14, 2026, 8:49 PM EDT
Completed Phase 3 Interventional Results available

EZN-2279 in Patients With ADA-SCID

NCT01420627
View directory record Official record
Conditions
ADA-SCID, Adenosine Deaminase Deficiency, Severe Combined Immunodeficiency
Interventions
EZN-2279, Adagen
Biological
Lead sponsor
Leadiant Biosciences, Inc.
Industry
Eligibility
Not listed
Enrollment
7 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2019
U.S. locations
6
States / cities
Los Angeles, California • San Francisco, California • Denver, Colorado + 3 more
Source: ClinicalTrials.gov public record
Updated Apr 15, 2020 · Synced Sep 14, 2026, 8:49 PM 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 Nov 30, 2025 · Synced Sep 14, 2026, 8:49 PM EDT
Recruiting No phase listed Observational

Familial Investigations of Childhood Cancer Predisposition

NCT03050268
View directory record Official record
Conditions
Acute Leukemia, Adenomatous Polyposis, Adrenocortical Carcinoma, AML, BAP1 Tumor Predisposition Syndrome, Carney Complex, Choroid Plexus Carcinoma, Constitutional Mismatch Repair Deficiency Syndrome, Diamond-Blackfan Anemia, DICER1 Syndrome, Dyskeratosis Congenita, Emberger Syndrome, Familial Acute Myeloid Leukemia, Familial Adenomatous Polyposis, Fanconi Anemia, Familial Cancer, Familial Wilms Tumor, Familial Neuroblastoma, GIST, Hereditary Breast and Ovarian Cancer, Hereditary Paraganglioma-Pheochromocytoma Syndrome, Hodgkin Lymphoma, Juvenile Polyposis, Li-Fraumeni Syndrome, Lynch Syndrome, MDS, Melanoma Syndrome, Multiple Endocrine Neoplasia Type 1, Multiple Endocrine Neoplasia Type 2, Neuroblastoma, Neurofibromatosis Type 1, Neurofibromatosis Type II, Nevoid Basal Cell Carcinoma Syndrome, Non Hodgkin Lymphoma, Noonan Syndrome and Other Rasopathy, Overgrowth Syndromes, Pancreatic Cancer, Peutz-Jeghers Syndrome, Pheochromocytoma/Paraganglioma, PTEN Hamartoma Tumor Syndrome, Retinoblastoma, Rhabdoid Tumor Predisposition Syndrome, Rhabdomyosarcoma, Rothmund-Thomson Syndrome, Tuberous Sclerosis, Von Hippel-Lindau Disease
Interventions
Not listed
Lead sponsor
St. Jude Children's Research Hospital
Other
Eligibility
Not listed
Enrollment
1,500 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2037
U.S. locations
1
States / cities
Memphis, Tennessee
Source: ClinicalTrials.gov public record
Updated Jun 16, 2026 · Synced Sep 14, 2026, 8:49 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 21, 2026 · Synced Sep 14, 2026, 8:49 PM EDT
Recruiting Phase 1Phase 2 Interventional

Safety and Efficacy of Mutation-targeted Precision Genetic Therapy for Ataxia-Telangiectasia (A-T)

NCT07215416
View directory record Official record
Conditions
Ataxia Telangiectasia
Interventions
Antisense oligonucleotide targeting the ATM gene
Drug
Lead sponsor
Timothy Yu
Other
Eligibility
0 Years to 17 Years
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2036
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated May 27, 2026 · Synced Sep 14, 2026, 8:49 PM EDT
Completed Phase 1 Interventional

Cyclophosphamide in Treating Patients Who Are Undergoing a Donor Bone Marrow Transplant for Fanconi's Anemia

NCT00317876
View directory record Official record
Conditions
Fanconi Anemia
Interventions
cyclophosphamide, cyclosporine, methotrexate, allogeneic bone marrow transplantation, nonmyeloablative allogeneic hematopoietic stem cell transplantation
Drug · Procedure
Lead sponsor
Fred Hutchinson Cancer Center
Other
Eligibility
Not listed
Enrollment
25 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 1998
U.S. locations
2
States / cities
Seattle, Washington
Source: ClinicalTrials.gov public record
Updated Apr 19, 2012 · Synced Sep 14, 2026, 8:49 PM 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 19, 2026 · Synced Sep 14, 2026, 8:49 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 10, 2017 · Synced Sep 14, 2026, 8:49 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 4, 2026 · Synced Sep 14, 2026, 8:49 PM EDT