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Showing 1–24 of 223 matching trials from the live ClinicalTrials.gov search.
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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 5, 2026, 6:01 AM EDT
Enrolling by invitation No phase listed Observational

Long-Term Follow-up: Phase I/II Clinical Study to Evaluate the Safety and Efficacy of the Infusion of RP-L102

NCT07527975
View directory record Official record
Conditions
Fanconi Anemia
Interventions
RP-L102
Biological
Lead sponsor
Rocket Pharmaceuticals Inc.
Industry
Eligibility
Not listed
Enrollment
14 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2038
U.S. locations
1
States / cities
Palo Alto, California
Source: ClinicalTrials.gov public record
Updated Apr 13, 2026 · Synced Sep 5, 2026, 6:01 AM EDT
Recruiting No phase listed Observational

Long-term Safety of Nipple Sparing Mastectomy in Women With High Penetrance Breast Cancer Susceptibility Genes in Breast Cancer

NCT06888388
View directory record Official record
Conditions
Breast Cancer Surgery
Interventions
Nipple Sparing Mastectomy (NSM), Skin-Sparing Mastectomy (SSM), Total (Simple) Mastectomy
Procedure
Lead sponsor
Sir Mortimer B. Davis - Jewish General Hospital
Other
Eligibility
18 Years to 90 Years · Female only
Enrollment
4,700 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2028
U.S. locations
5
States / cities
New Haven, Connecticut • Boston, Massachusetts • New York, New York + 2 more
Source: ClinicalTrials.gov public record
Updated Aug 17, 2026 · Synced Sep 5, 2026, 6:01 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 26, 2022 · Synced Sep 5, 2026, 6:01 AM EDT
Completed No phase listed Observational

Biological Significance of the Bloom's Syndrome Protein

NCT00021437
View directory record Official record
Conditions
Bloom Syndrome
Interventions
Not listed
Lead sponsor
National Center for Research Resources (NCRR)
NIH
Eligibility
2 Years to 55 Years
Healthy volunteers
Healthy volunteers not accepted
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated Jun 23, 2005 · Synced Sep 5, 2026, 6:01 AM EDT
Active, not recruiting Phase 3 Interventional

A Pivotal Study of N-Acetyl-L-Leucine on Ataxia-Telangiectasia (A-T)

NCT06673056
View directory record Official record
Conditions
Ataxia-Telangiectasia, Ataxia-Telangiectasia (A-T)
Interventions
N-Acetyl-L-Leucine, Placebo
Drug · Other
Lead sponsor
IntraBio Inc
Industry
Eligibility
4 Years and older
Enrollment
60 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2028
U.S. locations
3
States / cities
Los Angeles, California • Boston, Massachusetts • Houston, Texas
Source: ClinicalTrials.gov public record
Updated Jul 2, 2025 · Synced Sep 5, 2026, 6:01 AM 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 27, 2025 · Synced Sep 5, 2026, 6:01 AM EDT
Completed Phase 2Phase 3 Interventional

Risk-Adapted Allogeneic Stem Cell Transplantation For Mixed Donor Chimerism In Patients With Non-Malignant Diseases

NCT01019876
View directory record Official record
Conditions
Bone Marrow Failure, Osteopetrosis, Fanconi Anemia, Severe Combined Immunodeficiency
Interventions
Fludarabine, Cyclophosphamide, Busulfan, Alemtuzumab, Rabbit Anti-thymocyte Globulin, Horse Anti-thymocyte Globulin
Drug
Lead sponsor
Columbia University
Other
Eligibility
Up to 30 Years
Enrollment
38 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2002 – 2021
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated Oct 30, 2024 · Synced Sep 5, 2026, 6:01 AM EDT
Completed No phase listed Observational Accepts healthy volunteers

Role of p53 Gene in Metabolism Regulation in Patients With Li-Fraumeni Syndrome

NCT00406445
View directory record Official record
Conditions
Mitochondrial Disorders, Li-Fraumeni Syndrome, Carriers of p53 Mutation
Interventions
Not listed
Lead sponsor
National Heart, Lung, and Blood Institute (NHLBI)
NIH
Eligibility
18 Years to 100 Years
Enrollment
82 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2007 – 2021
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Nov 21, 2021 · Synced Sep 5, 2026, 6:01 AM 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 13, 2026 · Synced Sep 5, 2026, 6:01 AM 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 24, 2026 · Synced Sep 5, 2026, 6:01 AM EDT
Not listed No phase listed Observational

Xeroderma Pigmentosum Patient Experiences

NCT01123694
View directory record Official record
Conditions
Xeroderma Pigmentosum
Interventions
Survey Study
Other
Lead sponsor
Henry Ford Health System
Other
Eligibility
Not listed
Enrollment
15 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2010
U.S. locations
1
States / cities
Detroit, Michigan
Source: ClinicalTrials.gov public record
Updated May 13, 2010 · Synced Sep 5, 2026, 6:01 AM EDT
Completed Phase 1 Interventional

Bone Marrow Cell Gene Transfer in Individuals With Fanconi Anemia

NCT00272857
View directory record Official record
Conditions
Fanconi Anemia
Interventions
Retrovirus Construct
Genetic
Lead sponsor
Boston Children's Hospital
Other
Eligibility
1 Year to 35 Years
Enrollment
3 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2004 – 2007
U.S. locations
1
States / cities
Cincinnati, Ohio
Source: ClinicalTrials.gov public record
Updated Jun 22, 2017 · Synced Sep 5, 2026, 6:01 AM EDT
Recruiting No phase listed Observational

Lynch Syndrome Integrative Epidemiology and Genetics

NCT06582914
View directory record Official record
Conditions
Lynch Syndrome
Interventions
Not listed
Lead sponsor
University of Colorado, Denver
Other
Eligibility
18 Years and older
Enrollment
5,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2054
U.S. locations
2
States / cities
Aurora, Colorado • Chicago, Illinois
Source: ClinicalTrials.gov public record
Updated Jan 14, 2025 · Synced Sep 5, 2026, 6:01 AM EDT
Completed Phase 1 Interventional

Total-Body Irradiation Followed By Cyclosporine and Mycophenolate Mofetil in Treating Patients With Severe Combined Immunodeficiency Undergoing Donor Bone Marrow Transplant

NCT00008450
View directory record Official record
Conditions
Adenosine Deaminase Deficiency, Autosomal Recessive Disorder, Immune System Disorder, Purine-Nucleoside Phosphorylase Deficiency, Severe Combined Immunodeficiency, Severe Combined Immunodeficiency With Absence of T and B Cells, X-Linked Severe Combined Immunodeficiency
Interventions
Allogeneic Bone Marrow Transplantation, Cyclosporine, Laboratory Biomarker Analysis, Mycophenolate Mofetil, Nonmyeloablative Allogeneic Hematopoietic Stem Cell Transplantation, Total-Body Irradiation
Procedure · Drug · Other + 1 more
Lead sponsor
Fred Hutchinson Cancer Center
Other
Eligibility
Not listed
Enrollment
6 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1997 – 2018
U.S. locations
1
States / cities
Seattle, Washington
Source: ClinicalTrials.gov public record
Updated Jul 28, 2019 · Synced Sep 5, 2026, 6:01 AM EDT
Terminated No phase listed Observational

Ileal Pouch-Anal Anastomosis Registry

NCT01026480
View directory record Official record
Conditions
Ileal Pouch-Anal Anastomosis
Interventions
Not listed
Lead sponsor
Boston Medical Center
Other
Eligibility
Not listed
Enrollment
936 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2017
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Mar 16, 2017 · Synced Sep 5, 2026, 6:01 AM EDT
Recruiting Phase 3 Interventional

The Cancer of the Pancreas Screening-5 CAPS5)Study

NCT02000089
View directory record Official record
Conditions
Pancreas Cancer, Peutz-Jeghers Syndrome (PJS), Gene Mutation, Germline Mutation Carrier, Lynch Syndrome
Interventions
Secretin, MRI, Tumor marker gene test with CA19-9
Drug · Diagnostic Test · Other
Lead sponsor
Johns Hopkins University
Other
Eligibility
18 Years and older
Enrollment
9,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2029
U.S. locations
9
States / cities
New Haven, Connecticut • Baltimore, Maryland • Boston, Massachusetts + 5 more
Source: ClinicalTrials.gov public record
Updated Oct 8, 2025 · Synced Sep 5, 2026, 6:01 AM 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 5, 2026, 6:01 AM EDT
Completed No phase listed Observational

The Role of Bacteria and Genetic Variations in Cystic Fibrosis

NCT00043225
View directory record Official record
Conditions
Psuedomas Infection, Cystic Fibrosis
Interventions
Not listed
Lead sponsor
National Heart, Lung, and Blood Institute (NHLBI)
NIH
Eligibility
9 Years to 80 Years
Enrollment
76 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2001 – 2018
U.S. locations
4
States / cities
Bethesda, Maryland • Seattle, Washington • Madison, Wisconsin + 1 more
Source: ClinicalTrials.gov public record
Updated Jun 28, 2021 · Synced Sep 5, 2026, 6:01 AM EDT
Completed Phase 2 Interventional Results available

Pilot Study of Metformin for Patients With Fanconi Anemia

NCT03398824
View directory record Official record
Conditions
Fanconi Anemia
Interventions
metformin HCl
Drug
Lead sponsor
Boston Children's Hospital
Other
Eligibility
6 Years to 35 Years
Enrollment
15 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2020
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Nov 28, 2022 · Synced Sep 5, 2026, 6:01 AM 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 Sep 2, 2026 · Synced Sep 5, 2026, 6:01 AM 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 5, 2026, 6:01 AM EDT
Completed No phase listed Observational

Registry for Women Who Are At Risk Or May Have Lynch Syndrome

NCT00508573
View directory record Official record
Conditions
Hereditary Nonpolyposis Colorectal Cancer, Lynch Syndrome
Interventions
Questionnaire
Behavioral
Lead sponsor
M.D. Anderson Cancer Center
Other
Eligibility
18 Years and older · Female only
Enrollment
323 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2007 – 2024
U.S. locations
1
States / cities
Houston, Texas
Source: ClinicalTrials.gov public record
Updated Aug 8, 2024 · Synced Sep 5, 2026, 6:01 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 18, 2018 · Synced Sep 5, 2026, 6:01 AM EDT