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ClinicalTrials.gov public records Last synced Oct 28, 2026, 5:09 PM EDT

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Showing 1–24 of 941 matching trials from the live ClinicalTrials.gov search.
Filters: Condition: Genetic Mutations Clear all
Completed No phase listed Observational

Signs and Symptoms of Genetic Abnormalities Linked to Inherited Heart Disease

NCT00001881
View directory record Official record
Conditions
Cardiomyopathy, Hypertrophic, Familial
Interventions
Not listed
Lead sponsor
National Heart, Lung, and Blood Institute (NHLBI)
NIH
Eligibility
Not listed
Enrollment
9,999 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1999 – 2001
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Mar 4, 2008 · Synced Oct 28, 2026, 5:09 PM EDT
Terminated Phase 1Phase 2 Interventional Results available

Tarlox and Sotorasib in Patients With KRAS G12C Mutations

NCT05313009
View directory record Official record
Conditions
Non-Small Cell Lung Cancer
Interventions
Sotorasib and Tarloxotinib
Drug
Lead sponsor
Medical University of South Carolina
Other
Eligibility
18 Years and older
Enrollment
5 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2023
U.S. locations
1
States / cities
Charleston, South Carolina
Source: ClinicalTrials.gov public record
Updated Dec 16, 2025 · Synced Oct 28, 2026, 5:09 PM EDT
Active, not recruiting Phase 2 Interventional Results available

Blinatumomab and Combination Chemotherapy or Dasatinib, Prednisone, and Blinatumomab in Treating Older Patients With Acute Lymphoblastic Leukemia

NCT02143414
View directory record Official record
Conditions
Acute Lymphoblastic Leukemia, B Acute Lymphoblastic Leukemia, B Acute Lymphoblastic Leukemia With t(9;22)(q34.1;q11.2); BCR-ABL1, Recurrent Acute Lymphoblastic Leukemia, Refractory Acute Lymphoblastic Leukemia
Interventions
Biopsy Procedure, Biospecimen Collection, Blinatumomab, Bone Marrow Aspiration and Biopsy, Computed Tomography, Dasatinib, Echocardiography Test, Lumbar Puncture, Magnetic Resonance Imaging, Mercaptopurine, Methotrexate, Methotrexate Sodium, Prednisone, Vincristine, Vincristine Sulfate, X-Ray Imaging
Procedure · Biological · Drug
Lead sponsor
National Cancer Institute (NCI)
NIH
Eligibility
65 Years and older
Enrollment
53 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2027
U.S. locations
195
States / cities
Birmingham, Alabama • Tucson, Arizona • Little Rock, Arkansas + 139 more
Source: ClinicalTrials.gov public record
Updated Aug 4, 2026 · Synced Oct 28, 2026, 5:09 PM EDT
Terminated Phase 2 Interventional Results available

Study of Ataluren (PTC124) in Hemophilia A and B

NCT00947193
View directory record Official record
Conditions
Hemophilia A, Hemophilia B
Interventions
Ataluren
Drug
Lead sponsor
PTC Therapeutics
Industry
Eligibility
18 Years and older · Male only
Enrollment
13 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2011
U.S. locations
7
States / cities
Peoria, Illinois • Indianapolis, Indiana • Worcester, Massachusetts + 4 more
Source: ClinicalTrials.gov public record
Updated Jun 16, 2020 · Synced Oct 28, 2026, 5:09 PM EDT
Completed Phase 2 Interventional Results available

A Study to Evaluate Multiple Doses of GLPG2222 in Adult Subjects With Cystic Fibrosis

NCT03119649
View directory record Official record
Conditions
Cystic Fibrosis
Interventions
GLPG2222 50 mg, GLPG2222 100 mg, Placebo, GLPG2222 200 mg, GLPG2222 400 mg
Drug
Lead sponsor
Lakefront Biotherapeutics NV
Industry
Eligibility
18 Years to 99 Years
Enrollment
59 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017
U.S. locations
7
States / cities
Chatom, Alabama • Little Rock, Arkansas • Orlando, Florida + 4 more
Source: ClinicalTrials.gov public record
Updated Nov 16, 2018 · Synced Oct 28, 2026, 5:09 PM EDT
Completed Phase 1 Interventional

Dose Escalation Study of ARQ 736 in Adult Subjects With Advanced Solid Tumors Harboring BRAF and/or NRAS Mutations

NCT01225536
View directory record Official record
Conditions
Solid Tumor
Interventions
ARQ 736
Drug
Lead sponsor
ArQule, Inc., a subsidiary of Merck Sharp & Dohme LLC, a subsidiary of Merck & Co., Inc. (Rahway, NJ USA)
Industry
Eligibility
18 Years and older
Enrollment
24 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010 – 2013
U.S. locations
3
States / cities
Los Angeles, California • New Haven, Connecticut • New Brunswick, New Jersey
Source: ClinicalTrials.gov public record
Updated May 3, 2013 · Synced Oct 28, 2026, 5:09 PM EDT
Completed Phase 3 Interventional Results available

A Randomized, Double-Blind, Placebo-Controlled, Parallel-Group Study to Evaluate the Efficacy and Safety of VX-661 in Combination With Ivacaftor

NCT02347657
View directory record Official record
Conditions
Cystic Fibrosis
Interventions
VX-661 Plus Ivacaftor Combination, Ivacaftor, VX-661 Plus Ivacaftor Combination Placebo, Ivacaftor placebo
Drug
Lead sponsor
Vertex Pharmaceuticals Incorporated
Industry
Eligibility
12 Years and older
Enrollment
510 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2017
U.S. locations
27
States / cities
Little Rock, Arkansas • Long Beach, California • Denver, Colorado + 24 more
Source: ClinicalTrials.gov public record
Updated Jun 12, 2018 · Synced Oct 28, 2026, 5:09 PM EDT
Completed Phase 1 Interventional Results available

A Study of Intermittent, High-dose Afatinib to Determine the Maximal Tolerated Dose and Assess Activity of This Dose Against Non-small Cell Lung Cancer With T790M Mutations

NCT01647711
View directory record Official record
Conditions
Carcinoma, Non-Small-Cell Lung
Interventions
Dose escalation followed by treatment with MTD
Drug
Lead sponsor
Boehringer Ingelheim
Industry
Eligibility
18 Years and older
Enrollment
35 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2015
U.S. locations
2
States / cities
Aurora, Colorado • Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Jan 31, 2017 · Synced Oct 28, 2026, 5:09 PM EDT
Completed No phase listed Observational

Clinical Use of Parental Support To Detect Single Gene Mutations

NCT01197872
View directory record Official record
Conditions
Single Gene Disorders
Interventions
Preimplantation Genetic Diagnosis
Other
Lead sponsor
Natera, Inc.
Industry
Eligibility
Not listed
Enrollment
240 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010 – 2013
U.S. locations
1
States / cities
Redwood City, California
Source: ClinicalTrials.gov public record
Updated Jul 16, 2013 · Synced Oct 28, 2026, 5:09 PM EDT
Completed No phase listed Observational

International Breast Cancer Biomarker,Standard of Care and Real World Outcomes Study

NCT03078036
View directory record Official record
Conditions
Breast Cancer
Interventions
Germline BRCA Test (blood), FoundationOne Dx Genomic Profile (archival Tumour Specimen), Follow-up
Genetic · Other
Lead sponsor
AstraZeneca
Industry
Eligibility
18 Years and older · Female only
Enrollment
873 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2019
U.S. locations
14
States / cities
Santa Barbara, California • Denver, Colorado • Hialeah, Florida + 10 more
Source: ClinicalTrials.gov public record
Updated May 20, 2020 · Synced Oct 28, 2026, 5:09 PM EDT
Completed Phase 2 Interventional Results available

A Study to Evaluate the Safety and Efficacy of VX-371 in Subjects With Cystic Fibrosis Who Are Homozygous for the F508del-CFTR Mutation

NCT02709109
View directory record Official record
Conditions
Cystic Fibrosis
Interventions
VX-371 + HS, Hypertonic saline, Placebo, Orkambi, VX-371
Drug
Lead sponsor
Parion Sciences
Industry
Eligibility
12 Years and older
Enrollment
147 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2017
U.S. locations
30
States / cities
Little Rock, Arkansas • Oakland, California • Gainesville, Florida + 27 more
Source: ClinicalTrials.gov public record
Updated Jul 29, 2021 · Synced Oct 28, 2026, 5:09 PM EDT
Recruiting No phase listed Observational

Pediatric Cardiomyopathy Mutation Analysis

NCT02432092
View directory record Official record
Conditions
Cardiomyopathies, Dilated Cardiomyopathy, Hypertrophic Cardiomyopathy, Restrictive Cardiomyopathy, Arrhythmogenic Right Ventricular Cardiomyopathy, Left Ventricular Non-compaction Cardiomyopathy
Interventions
Not listed
Lead sponsor
Indiana University
Other
Eligibility
Not listed
Enrollment
300 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2030
U.S. locations
1
States / cities
Indianapolis, Indiana
Source: ClinicalTrials.gov public record
Updated Jun 22, 2026 · Synced Oct 28, 2026, 5:09 PM EDT
Completed Phase 1Phase 2 Interventional Results available

Nivolumab (Opdivo®) Plus ABI-009 (Nab-rapamycin) for Advanced Sarcoma and Certain Cancers

NCT03190174
View directory record Official record
Conditions
Ewing Sarcoma, PEComa, Epithelioid Sarcoma, Desmoid Tumor, Chordoma, Non Small Cell Lung Cancer, Urothelial Carcinoma, Melanoma, Renal Cell Carcinoma, Squamous Cell Carcinoma, Hepatocellular Carcinoma, Classical Hodgkin Lymphoma, Colorectal Cancer, MTOR Activating Mutation
Interventions
Nab-Rapamycin, Nivolumab
Drug · Biological
Lead sponsor
Sarcoma Oncology Research Center, LLC
Other
Eligibility
12 Years and older
Enrollment
34 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2021
U.S. locations
1
States / cities
Santa Monica, California
Source: ClinicalTrials.gov public record
Updated Feb 17, 2025 · Synced Oct 28, 2026, 5:09 PM EDT
Completed Phase 3 Interventional Results available

Rollover Study of Ivacaftor in Subjects With Cystic Fibrosis and a Non G551D CFTR Mutation

NCT01707290
View directory record Official record
Conditions
Cystic Fibrosis
Interventions
Ivacaftor
Drug
Lead sponsor
Vertex Pharmaceuticals Incorporated
Industry
Eligibility
6 Years and older
Enrollment
125 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2016
U.S. locations
33
States / cities
Birmingham, Alabama • Palo Alto, California • Denver, Colorado + 30 more
Source: ClinicalTrials.gov public record
Updated May 12, 2017 · Synced Oct 28, 2026, 5:09 PM EDT
Not listed No phase listed Observational

Validation of Saliva in the Esoterix Genetic Laboratories Fragile X Assay

NCT01616589
View directory record Official record
Conditions
Fragile X Syndrome
Interventions
Not listed
Lead sponsor
Esoterix Genetic Laboratories, LLC
Industry
Eligibility
Not listed
Enrollment
100 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012
U.S. locations
1
States / cities
Westborough, Massachusetts
Source: ClinicalTrials.gov public record
Updated Jun 12, 2012 · Synced Oct 28, 2026, 5:09 PM EDT
Completed Phase 3 Interventional Results available

Olaparib Treatment in Relapsed Germline Breast Cancer Susceptibility Gene (BRCA) Mutated Ovarian Cancer Patients Who Have Progressed at Least 6 Months After Last Platinum Treatment and Have Received at Least 2 Prior Platinum Treatments

NCT02282020
View directory record Official record
Conditions
Relapsed Ovarian Cancer, BRCA Mutation, Platinum Sensitivity
Interventions
OLAPARIB, Single agent chemotherapy
Drug
Lead sponsor
AstraZeneca
Industry
Eligibility
18 Years to 130 Years · Female only
Enrollment
266 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2022
U.S. locations
22
States / cities
Birmingham, Alabama • Mobile, Alabama • Sacramento, California + 19 more
Source: ClinicalTrials.gov public record
Updated Jul 26, 2022 · Synced Oct 28, 2026, 5:09 PM EDT
Active, not recruiting Phase 1 Interventional

A Phase 1 Study of ATV-1601 in Patients With Advanced Cancer That Have AKT1 E17K Mutations

NCT07038369
View directory record Official record
Conditions
Advanced Solid Tumors, Breast Cancer, Breast Carcinoma, Breast Neoplasms, ER Positive Breast Cancer, Cervical Cancers, Cervical Neoplasms, Cervical Carcinoma, Triple Negative Breast Cancer, Gynecologic Cancers, Gynecologic Neoplasm, Endometrial Cancer, Endometrial Neoplasm, Endometrial Carcinoma (EC), Fallopian Cancer, Ovarian Carcinoma, Ovarian Cancer, Ovarian Neoplasms, Prostate Cancers, Prostate Carcinoma, Solid Tumors, Neoplasms, Neoplasms by Site, Breast Diseases, Uterine Neoplasms, Genital Neoplasms, Female, Urogenital Neoplasms
Interventions
ATV-1601, ATV-1601 + Fulvestrant
Drug · Combination Product
Lead sponsor
Atavistik Bio, Inc
Industry
Eligibility
18 Years and older
Enrollment
134 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2029
U.S. locations
5
States / cities
Los Angeles, California • Lake Mary, Florida • Boston, Massachusetts + 2 more
Source: ClinicalTrials.gov public record
Updated Aug 7, 2026 · Synced Oct 28, 2026, 5:09 PM EDT
Terminated Phase 2 Interventional Results available

Niraparib in the Treatment of Patients With Advanced PALB2 Mutated Tumors

NCT05169437
View directory record Official record
Conditions
Solid Tumor, Breast Tumor, Colon Tumor, Malignant, Lung Tumor, Urologic Cancer, Pancreatic Cancer, Melanoma, Metastatic Cancer, Locally Advanced Solid Tumor, Esophageal Cancer, Endometrial Cancer, Head and Neck Cancer
Interventions
Niraparib
Drug
Lead sponsor
Tempus AI
Industry
Eligibility
18 Years and older
Enrollment
22 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2024
U.S. locations
80
States / cities
Yuma, Arizona • Springdale, Arkansas • Fountain Valley, California + 69 more
Source: ClinicalTrials.gov public record
Updated Oct 29, 2025 · Synced Oct 28, 2026, 5:09 PM EDT
Not yet recruiting Phase 2 Interventional

Zipalertinib With Carboplatin and Pemetrexed for the Treatment of Resectable, Stage II-IIIB, Non-Small Cell Lung Cancer

NCT07229339
View directory record Official record
Conditions
Lung Non-Squamous Non-Small Cell Carcinoma
Interventions
Biospecimen Collection, Carboplatin, Computed Tomography, Magnetic Resonance Imaging, Pemetrexed, Positron Emission Tomography, Zipalertinib
Procedure · Drug
Lead sponsor
Jonsson Comprehensive Cancer Center
Other
Eligibility
18 Years and older
Enrollment
16 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2027 – 2030
U.S. locations
1
States / cities
Los Angeles, California
Source: ClinicalTrials.gov public record
Updated Feb 5, 2026 · Synced Oct 28, 2026, 5:09 PM EDT
Active, not recruiting Phase 2 Interventional

Olaparib In Metastatic Breast Cancer

NCT03344965
View directory record Official record
Conditions
Metastatic Breast Cancer, Invasive Breast Cancer, Somatic Mutation Breast Cancer (BRCA1), Somatic Mutation Breast Cancer (BRCA2), CHEK2 Gene Mutation, ATM Gene Mutation, PALB2 Gene Mutation, RAD51 Gene Mutation, BRIP1 Gene Mutation, NBN Gene Mutation
Interventions
Olaparib
Drug
Lead sponsor
Beth Israel Deaconess Medical Center
Other
Eligibility
18 Years and older
Enrollment
114 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2026
U.S. locations
20
States / cities
Birmingham, Alabama • San Francisco, California • Chicago, Illinois + 15 more
Source: ClinicalTrials.gov public record
Updated Jan 5, 2026 · Synced Oct 28, 2026, 5:09 PM EDT
Completed Phase 3 Interventional Results available

Evolocumab Compared to LDL-C Apheresis in Patients Receiving LDL-C Apheresis Prior to Study Enrollment

NCT02585895
View directory record Official record
Conditions
Hypercholesterolemia
Interventions
Evolocumab, Low-density Lipoprotein Cholesterol (LDL-C) Apheresis
Biological · Procedure
Lead sponsor
Amgen
Industry
Eligibility
18 Years and older
Enrollment
39 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2017
U.S. locations
4
States / cities
Boca Raton, Florida • Kansas City, Kansas • Grandville, Michigan + 1 more
Source: ClinicalTrials.gov public record
Updated Nov 30, 2022 · Synced Oct 28, 2026, 5:09 PM EDT
Completed Not applicable Interventional

Telephone-Based Genetic Counseling or Standard Genetic Counseling in Women at Risk of Carrying the BRCA1 or BRCA2 Mutation

NCT00287898
View directory record Official record
Conditions
Breast Cancer
Interventions
Telephone Genetic Counseling, Usual Care
Behavioral
Lead sponsor
Georgetown University
Other
Eligibility
21 Years to 85 Years · Female only
Enrollment
669 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2005 – 2014
U.S. locations
4
States / cities
Washington D.C., District of Columbia • Boston, Massachusetts • New York, New York + 1 more
Source: ClinicalTrials.gov public record
Updated Apr 7, 2017 · Synced Oct 28, 2026, 5:09 PM EDT
Recruiting Phase 2 Interventional

EXACT Study: A Blinded Study in Patients With Alport Syndrome to Evaluate Exaluren Efficacy and Safety

NCT07523581
View directory record Official record
Conditions
Alport Syndrome, X-Linked, Alport Syndrome, Autosomal Recessive
Interventions
Exaluren
Drug
Lead sponsor
Eloxx Pharmaceuticals, Inc.
Industry
Eligibility
12 Years and older
Enrollment
24 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2027
U.S. locations
7
States / cities
Los Angeles, California • Stanford, California • Denver, Colorado + 4 more
Source: ClinicalTrials.gov public record
Updated Sep 30, 2026 · Synced Oct 28, 2026, 5:09 PM EDT
Completed Phase 2 Interventional Results available

Phase 2 Study of AUY922 in NSCLC Patients With Exon 20 Insertion Mutations in EGFR

NCT01854034
View directory record Official record
Conditions
Non Small Cell Lung Cancer
Interventions
AUY922
Drug
Lead sponsor
Massachusetts General Hospital
Other
Eligibility
18 Years and older
Enrollment
29 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2017
U.S. locations
4
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Apr 10, 2018 · Synced Oct 28, 2026, 5:09 PM EDT