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ClinicalTrials.gov public records Last synced Jun 25, 2026, 11:47 AM EDT

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Showing 1–24 of 76 matching trials from the live ClinicalTrials.gov search.
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Filters: Condition: Germline Mutation Clear all
Recruiting No phase listed Observational Accepts healthy volunteers

Natural History Study of CADASIL

NCT05072483
View directory record Official record
Conditions
Cardiovascular Disease, Arterial Stiffness, Germline Mutation in the NOTCH 3 Gene, Pathogenesis of CADASIL, Clinical Phenotype of CADASIL
Interventions
MRI
Device
Lead sponsor
National Heart, Lung, and Blood Institute (NHLBI)
NIH
Eligibility
18 Years to 100 Years
Enrollment
155 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2022 – 2041
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Jun 24, 2026 · Synced Jun 25, 2026, 11:47 AM EDT
Completed Phase 3 Interventional Results available

To Study Clinical Effectiveness and Safety of Olaparib Monotherapy in Metastatic Breast Cancer Patients.

NCT03286842
View directory record Official record
Conditions
HER2-ve Metastatic Breast Cancer, Germline BRCA1/2 Mutations, Somatic BRCA1/2 Mutations
Interventions
Olaparib
Drug
Lead sponsor
AstraZeneca
Industry
Eligibility
18 Years to 130 Years
Enrollment
256 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2021
U.S. locations
2
States / cities
Towson, Maryland • Jackson, Mississippi
Source: ClinicalTrials.gov public record
Updated Jan 16, 2023 · Synced Jun 25, 2026, 11:47 AM EDT
Completed No phase listed Observational Results available

Prostate Cancer Screening in Men With Germline BRCA2 Mutations

NCT02154672
View directory record Official record
Conditions
Prostate Cancer
Interventions
Not listed
Lead sponsor
Yale University
Other
Eligibility
30 Years to 90 Years · Male only
Enrollment
1 participant
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2019
U.S. locations
1
States / cities
New Haven, Connecticut
Source: ClinicalTrials.gov public record
Updated Feb 8, 2021 · Synced Jun 25, 2026, 11:47 AM EDT
Not yet recruiting Phase 2Phase 3 Interventional

Double-Blind Trial of Everolimus for Improving Social Abilities in PTEN Germline Mutations

NCT07218575
View directory record Official record
Conditions
Cowden's Disease, Cowden's Syndrome, Lhermitte-Duclos Disease, Cerebellum Dysplastic Gangliocytoma, Bannayan Zonana Syndrome, Myhre Riley Smith Syndrome, Riley Smith Syndrome, PTEN Hamartoma Tumor Syndrome, Bannayan Riley Ruvalcaba Syndrome
Interventions
Everolimus blinded oral capsules, Placebo
Drug
Lead sponsor
Boston Children's Hospital
Other
Eligibility
5 Years to 45 Years
Enrollment
60 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2030
U.S. locations
3
States / cities
Stanford, California • Boston, Massachusetts • Cleveland, Ohio
Source: ClinicalTrials.gov public record
Updated Jun 3, 2026 · Synced Jun 25, 2026, 11:47 AM EDT
Completed Phase 3 Interventional Results available

Assessment of the Efficacy and Safety of Olaparib Monotherapy Versus Physicians Choice Chemotherapy in the Treatment of Metastatic Breast Cancer Patients With Germline BRCA1/2 Mutations.

NCT02000622
View directory record Official record
Conditions
Breast Cancer Metastatic, BRCA 1 Gene Mutation, BRCA 2 Gene Mutation
Interventions
Olaparib, Physician's choice chemotherapy
Drug
Lead sponsor
AstraZeneca
Industry
Eligibility
18 Years to 99 Years
Enrollment
302 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2025
U.S. locations
42
States / cities
San Diego, California • Santa Rosa, California • Whittier, California + 35 more
Source: ClinicalTrials.gov public record
Updated Feb 12, 2026 · Synced Jun 25, 2026, 11:47 AM EDT
Completed No phase listed Observational Results available

Treatment Patterns and Clinical Outcomes Among Talazoparib-Treated Adults With HER2-Negative mBC With gBRCA1/2m

NCT05141708
View directory record Official record
Conditions
Metastatic Breast Cancer, Breast Neoplasms
Interventions
Talazoparib
Drug
Lead sponsor
Pfizer
Industry
Eligibility
18 Years and older
Enrollment
33 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2022
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated Feb 15, 2024 · Synced Jun 25, 2026, 11:47 AM EDT
Completed Not applicable Interventional

Sequential EHR Based Interventions to Increase Genetic Testing for Breast and Ovarian Cancer Predisposition

NCT05721326
View directory record Official record
Conditions
Genetic Predisposition to Disease, Breast Cancer Female, Ovarian Cancer, Hereditary Breast and Ovarian Cancer, Hereditary Cancer Syndrome, Hereditary Diseases, Gene Mutation-Related Cancer
Interventions
Sequential EHR Communications
Other
Lead sponsor
Abramson Cancer Center at Penn Medicine
Other
Eligibility
25 Years to 100 Years · Female only
Enrollment
1,283 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2025
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Jun 16, 2026 · Synced Jun 25, 2026, 11:47 AM EDT
Completed Phase 3 Interventional Results available

Olaparib in gBRCA Mutated Pancreatic Cancer Whose Disease Has Not Progressed on First Line Platinum-Based Chemotherapy

NCT02184195
View directory record Official record
Conditions
Germline BRCA1/2 Mutations and, Metastatic Adenocarcinoma of the Pancreas
Interventions
Olaparib, Placebo
Drug
Lead sponsor
AstraZeneca
Industry
Eligibility
18 Years to 130 Years
Enrollment
154 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2023
U.S. locations
20
States / cities
Gilbert, Arizona • Orange, California • Stanford, California + 14 more
Source: ClinicalTrials.gov public record
Updated Sep 12, 2023 · Synced Jun 25, 2026, 11:47 AM EDT
Recruiting No phase listed Observational

Long Term Follow-Up of Patients With Mesothelioma and Individuals With Germline Mutations in BAP1

NCT03830229
View directory record Official record
Conditions
Mesothelioma, Families
Interventions
Not listed
Lead sponsor
National Cancer Institute (NCI)
NIH
Eligibility
2 Years and older
Enrollment
1,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2027
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Jun 15, 2026 · Synced Jun 25, 2026, 11:47 AM EDT
Terminated Phase 2 Interventional Results available

Maintenance Rucaparib in BRCA1, BRCA2 or PALB2 Mutated Pancreatic Cancer That Has Not Progressed on Platinum-based Therapy

NCT03140670
View directory record Official record
Conditions
Pancreatic Cancer
Interventions
RUCAPARIB
Drug
Lead sponsor
Abramson Cancer Center at Penn Medicine
Other
Eligibility
18 Years and older
Enrollment
46 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2023
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Sep 27, 2023 · Synced Jun 25, 2026, 11:47 AM EDT
Not listed No phase listed Observational

BAP1 Testing in Instance Choroidal Nevi or Uveal Melanoma

NCT01925599
View directory record Official record
Conditions
Choroidal Nevi, Uveal Melanoma
Interventions
Not listed
Lead sponsor
Amy C Schefler, MD
Other
Eligibility
18 Years and older
Enrollment
133 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2022
U.S. locations
3
States / cities
Houston, Texas • Katy, Texas • The Woodlands, Texas
Source: ClinicalTrials.gov public record
Updated Mar 25, 2021 · Synced Jun 25, 2026, 11:47 AM EDT
Terminated Phase 2 Interventional Results available

BMN 673 (Talazoparib), an Oral PARP Inhibitor, in People With Deleterious BRCA1/2 Mutation-Associated Ovarian Cancer Who Have Had Prior PARP Inhibitor Treatment

NCT02326844
View directory record Official record
Conditions
Ovarian Cancer
Interventions
BMN 673 (talazoparib)
Drug
Lead sponsor
National Cancer Institute (NCI)
NIH
Eligibility
18 Years to 99 Years · Female only
Enrollment
3 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2016
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Aug 17, 2020 · Synced Jun 25, 2026, 11:47 AM EDT
Recruiting Phase 1 Interventional

Study of CX-5461 in Patients With Solid Tumours and BRCA1/2, PALB2 or Homologous Recombination Deficiency (HRD) Mutation

NCT04890613
View directory record Official record
Conditions
Advanced Solid Tumor
Interventions
CX-5461
Drug
Lead sponsor
Senhwa Biosciences, Inc.
Industry
Eligibility
18 Years and older
Enrollment
52 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2027
U.S. locations
6
States / cities
Santa Monica, California • Tampa, Florida • Boston, Massachusetts + 3 more
Source: ClinicalTrials.gov public record
Updated Jun 7, 2026 · Synced Jun 25, 2026, 11:47 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 17, 2020 · Synced Jun 25, 2026, 11:47 AM EDT
Active, not recruiting Phase 2 Interventional

Niraparib + Dostarlimab In BRCA Mutated Breast Cancer

NCT04584255
View directory record Official record
Conditions
Stage I Breast Cancer, Stage II Breast Cancer, Stage III Breast Cancer, Breast Cancer, HER2-negative Breast Cancer, Germline BRCA1 Gene Mutation, Germline BRCA2 Gene Mutation, Deleterious PALB2 Gene Mutation
Interventions
Niraparib, Dostarlimab
Drug
Lead sponsor
Dana-Farber Cancer Institute
Other
Eligibility
18 Years and older
Enrollment
62 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2029
U.S. locations
8
States / cities
New Haven, Connecticut • Baltimore, Maryland • Boston, Massachusetts + 3 more
Source: ClinicalTrials.gov public record
Updated May 12, 2026 · Synced Jun 25, 2026, 11:47 AM EDT
Completed No phase listed Observational

Clinical and Histopathologic Characteristics of BAP1 Mutations

NCT01773655
View directory record Official record
Conditions
Malignant Pleural Mesothelioma (MPM), Choroidal Nevus, Primary Uveal Melanoma (UM), Metastatic Uveal Melanoma (UM), Renal Cell Carcinoma, Cholangiocarcinoma
Interventions
tumor specimens
Other
Lead sponsor
Memorial Sloan Kettering Cancer Center
Other
Eligibility
18 Years and older
Enrollment
196 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2020
U.S. locations
2
States / cities
Harrison, New York • New York, New York
Source: ClinicalTrials.gov public record
Updated Jun 30, 2020 · Synced Jun 25, 2026, 11:47 AM EDT
Completed No phase listed Observational

CADASIL Disease Discovery

NCT02821780
View directory record Official record
Conditions
Germline Mutation in the NOTCH 3 Gene, Cardiovascular Disease, Arterial Stiffness, Pathogenesis of CADASIL, Clinical Phenotype of CADASIL
Interventions
Not listed
Lead sponsor
National Heart, Lung, and Blood Institute (NHLBI)
NIH
Eligibility
18 Years to 100 Years
Enrollment
20 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2022
U.S. locations
2
States / cities
Bethesda, Maryland • Columbus, Ohio
Source: ClinicalTrials.gov public record
Updated Jun 23, 2026 · Synced Jun 25, 2026, 11:47 AM EDT
Withdrawn Phase 1Phase 2 Interventional

Sirolimus for Improving Social Abilities in People With PTEN Germline Mutations

NCT06080165
View directory record Official record
Conditions
PTEN Gene Mutation, PTEN Hamartoma Tumor Syndrome, PTEN Hamartoma Syndrome
Interventions
Sirolimus, Placebo
Drug
Lead sponsor
Stanford University
Other
Eligibility
5 Years to 45 Years
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2028
U.S. locations
3
States / cities
Stanford, California • Boston, Massachusetts • Cleveland, Ohio
Source: ClinicalTrials.gov public record
Updated Jul 9, 2024 · Synced Jun 25, 2026, 11:47 AM EDT
Active, not recruiting Phase 3 Interventional Accepts healthy volunteers

Studying the Effect of Denosumab on Preventing Breast Cancer in Women With a BRCA1 Germline Mutation

NCT04711109
View directory record Official record
Conditions
BRCA1 Mutation, Breast Cancer, Breast Diseases, Breast Neoplasms, Breast Carcinoma, Neoplasms
Interventions
Denosumab, Placebo, Quality-of-Life Assessment
Drug · Other
Lead sponsor
Alliance for Clinical Trials in Oncology
Other
Eligibility
25 Years to 55 Years · Female only
Enrollment
300 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2023 – 2033
U.S. locations
47
States / cities
Los Angeles, California • San Francisco, California • Aurora, Colorado + 38 more
Source: ClinicalTrials.gov public record
Updated Apr 1, 2025 · Synced Jun 25, 2026, 11:47 AM EDT
Active, not recruiting Phase 3 Interventional Results available

A Study of Niraparib in Combination With Abiraterone Acetate and Prednisone Versus Abiraterone Acetate and Prednisone for the Treatment of Participants With Deleterious Germline or Somatic Homologous Recombination Repair (HRR) Gene-Mutated Metastatic Castration-Sensitive Prostate Cancer (mCSPC)

NCT04497844
View directory record Official record
Conditions
Metastatic Castration-sensitive Prostate Cancer
Interventions
Niraparib, Abiraterone acetate (AA), Prednisone, Placebo for Niraparib
Drug
Lead sponsor
Janssen Research & Development, LLC
Industry
Eligibility
18 Years and older · Male only
Enrollment
696 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2027
U.S. locations
53
States / cities
Homewood, Alabama • Phoenix, Arizona • Tucson, Arizona + 45 more
Source: ClinicalTrials.gov public record
Updated Jun 4, 2026 · Synced Jun 25, 2026, 11:47 AM EDT
Completed Not applicable Interventional Results available

Pre-Test Genetic Education and Remote Genetic Counseling in Communicating Tumor Profiling Results to Patients With Advanced Cancer

NCT02823652
View directory record Official record
Conditions
Advanced Malignant Neoplasm, Locally Advanced Malignant Neoplasm
Interventions
standard genetic education, Genetic Counseling, Genetic Testing, Internet-Based Intervention, Survey Administration
Other
Lead sponsor
ECOG-ACRIN Cancer Research Group
Network
Eligibility
18 Years and older
Enrollment
601 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2019
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Feb 27, 2024 · Synced Jun 25, 2026, 11:47 AM EDT
Completed Phase 2 Interventional Results available

Trial of Rucaparib in Patients With Metastatic Hormone-Sensitive Prostate Cancer Harboring Germline DNA Repair Gene Mutations

NCT03413995
View directory record Official record
Conditions
Prostate Cancer Metastatic
Interventions
Rucaparib
Drug
Lead sponsor
Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins
Other
Eligibility
18 Years and older · Male only
Enrollment
12 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2024
U.S. locations
2
States / cities
Baltimore, Maryland • New York, New York
Source: ClinicalTrials.gov public record
Updated Oct 15, 2024 · Synced Jun 25, 2026, 11:47 AM EDT
Terminated Phase 1 Interventional Results available

A Phase I, Open-Label, 2 Part Multicentre Study to Assess the Safety and Efficacy of Olaparib in Combination With Carboplatin in Patients With Advanced HER-2 Negative Breast Cancer

NCT02561832
View directory record Official record
Conditions
Breast Cancer
Interventions
Olaparib, Carboplatin, Anthracycline, Cyclophosphamide
Drug
Lead sponsor
AstraZeneca
Industry
Eligibility
18 Years to 130 Years
Enrollment
15 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2017
U.S. locations
2
States / cities
New York, New York • Stony Brook, New York
Source: ClinicalTrials.gov public record
Updated Feb 19, 2019 · Synced Jun 25, 2026, 11:47 AM EDT
Terminated Phase 3 Interventional Results available

A Phase III Trial of Niraparib Versus Physician's Choice in HER2 Negative, Germline BRCA Mutation-positive Breast Cancer Patients

NCT01905592
View directory record Official record
Conditions
Neoplasms, Breast, Carcinoma of Breast, Human Epidermal Growth Factor 2 Negative Carcinoma of Breast, BRCA1 Gene Mutation, BRCA2 Gene Mutation, Ovarian Neoplasms
Interventions
niraparib, Physician's choice
Drug
Lead sponsor
Tesaro, Inc.
Industry
Eligibility
18 Years and older
Enrollment
216 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2021
U.S. locations
25
States / cities
Tucson, Arizona • Los Angeles, California • Fort Myers, Florida + 20 more
Source: ClinicalTrials.gov public record
Updated Nov 14, 2022 · Synced Jun 25, 2026, 11:47 AM EDT