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Showing 1–24 of 933 matching trials from the live ClinicalTrials.gov search.
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Filters: Condition: Genetic Mutations Clear all
Not listed No phase listed Observational

Studying Breast Cancer Risk in Women Who Are BRCA1/BRCA2 Mutation Carriers

NCT00897455
View directory record Official record
Conditions
brca1 Mutation Carrier, brca2 Mutation Carrier, Breast Cancer
Interventions
DNA analysis, mutation analysis, polymorphism analysis, laboratory biomarker analysis, evaluation of cancer risk factors
Genetic · Other · Procedure
Lead sponsor
Gynecologic Oncology Group
Network
Eligibility
18 Years to 80 Years · Female only
Enrollment
10,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2008
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Mar 22, 2011 · Synced Jul 21, 2026, 11:22 AM EDT
Completed Phase 2 Interventional Results available

Ponatinib for Patients Whose Advanced Solid Tumor Cancer Has Activating Mutations Involving the Following Genes: FGFR1, FGFR2, FGFR3, FGFR4, RET, KIT.

NCT02272998
View directory record Official record
Conditions
Malignant Neoplasm
Interventions
ponatinib hydrochloride, laboratory biomarker analysis
Drug · Other
Lead sponsor
Sameek Roychowdhury
Other
Eligibility
18 Years and older
Enrollment
22 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2022
U.S. locations
2
States / cities
Ann Arbor, Michigan • Columbus, Ohio
Source: ClinicalTrials.gov public record
Updated Mar 23, 2025 · Synced Jul 21, 2026, 11:22 AM EDT
Active, not recruiting Phase 2 Interventional Results available

Testing Trametinib as a Potential Targeted Treatment in Cancers With NF1 Genetic Changes (MATCH-Subprotocol S1)

NCT04439318
View directory record Official record
Conditions
Advanced Lymphoma, Advanced Malignant Solid Neoplasm, Hematopoietic and Lymphoid Cell Neoplasm, Refractory Lymphoma, Refractory Malignant Solid Neoplasm, Refractory Multiple Myeloma
Interventions
Trametinib Dimethyl Sulfoxide
Drug
Lead sponsor
National Cancer Institute (NCI)
NIH
Eligibility
18 Years and older
Enrollment
50 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2026
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Jul 16, 2026 · Synced Jul 21, 2026, 11:22 AM EDT
Not listed Phase 2 Interventional

The Effects of Exercise Versus Inactivity on People With Mitochondrial Muscle Disease

NCT00457314
View directory record Official record
Conditions
Mitochondrial Myopathy
Interventions
Exercise
Behavioral
Lead sponsor
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
NIH
Eligibility
18 Years to 65 Years
Enrollment
50 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2007 – 2012
U.S. locations
1
States / cities
Dallas, Texas
Source: ClinicalTrials.gov public record
Updated May 18, 2009 · Synced Jul 21, 2026, 11:22 AM EDT
Recruiting Phase 1 Interventional

A Study to Find a Suitable Dose of ASP5834 in Adults With Solid Tumors

NCT07094204
View directory record Official record
Conditions
Solid Tumor, Non-Small-Cell Lung Cancer, Pancreatic Ductal Adenocarcinoma, Colorectal Cancer
Interventions
ASP5834, panitumumab
Drug
Lead sponsor
Astellas Pharma Inc
Industry
Eligibility
18 Years and older
Enrollment
364 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2029
U.S. locations
11
States / cities
Santa Monica, California • Atlanta, Georgia • Jefferson, Louisiana + 8 more
Source: ClinicalTrials.gov public record
Updated May 17, 2026 · Synced Jul 21, 2026, 11:22 AM EDT
Withdrawn Phase 1 Interventional

Testing the Addition of Immunotherapy With Hu5F9-G4 (Magrolimab) to the Usual PARP Inhibitor, Olaparib for Treatment of Metastatic or Recurrent Breast or Castrate-Resistant Prostate Cancer With BRCA Mutations

NCT05807126
View directory record Official record
Conditions
Anatomic Stage IV Breast Cancer AJCC v8, Castration-Resistant Prostate Carcinoma, Stage IVB Prostate Cancer AJCC v8
Interventions
Biopsy, Biospecimen Collection, Computed Tomography, Magnetic Resonance Imaging, Magrolimab, Olaparib
Procedure · Biological · Drug
Lead sponsor
National Cancer Institute (NCI)
NIH
Eligibility
18 Years and older
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2026
U.S. locations
5
States / cities
Costa Mesa, California • Orange, California • The Bronx, New York + 1 more
Source: ClinicalTrials.gov public record
Updated May 1, 2024 · Synced Jul 21, 2026, 11:22 AM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Natural History Study - Mitochondrial Disease

NCT01532791
View directory record Official record
Conditions
MELAS or m.3243 A>G Mitochondrial DNA Mutation Carrier
Interventions
Not listed
Lead sponsor
Columbia University
Other
Eligibility
4 Years and older
Enrollment
300 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2004 – 2026
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated Jan 22, 2026 · Synced Jul 21, 2026, 11:22 AM EDT
Recruiting Phase 1 Interventional

Study of NMS-03597812 in Adult Patients With Relapsed/Refractory Acute Myeloid Leukemia

NCT06549790
View directory record Official record
Conditions
Relapsed/Refractory Acute Myeloid Leukemia
Interventions
NMS-03597812
Drug
Lead sponsor
Nerviano Medical Sciences
Industry
Eligibility
18 Years and older
Enrollment
124 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2030
U.S. locations
7
States / cities
Duarte, California • Aurora, Colorado • Newark, Delaware + 4 more
Source: ClinicalTrials.gov public record
Updated Oct 30, 2025 · Synced Jul 21, 2026, 11:22 AM 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 21, 2026 · Synced Jul 21, 2026, 11:22 AM EDT
Completed Phase 1Phase 2 Interventional Results available

A Study of FT-2102 in Patients With Advanced Solid Tumors and Gliomas With an IDH1 Mutation

NCT03684811
View directory record Official record
Conditions
Cohort 1a and 1b: Glioma (Advanced Gliomas and Glioblastoma Multiforme), Cohort 2a and 2b: Hepatobiliary Tumors (Hepatocellular Carcinoma, Bile Duct Carcinoma, Intrahepatic Cholangiocarcinoma, Other Hepatobiliary Carcinomas), Cohort 3a and 3b: Chondrosarcoma, Cohort 4a and 4b: Intrahepatic Cholangiocarcinoma, Cohort 5a: Other Non-Central Nervous System Solid Tumors With IDH1 Mutations
Interventions
FT-2102, Azacitidine, Nivolumab, Gemcitabine and Cisplatin
Drug · Biological
Lead sponsor
Forma Therapeutics, Inc.
Industry
Eligibility
18 Years and older
Enrollment
93 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2022
U.S. locations
14
States / cities
Gilbert, Arizona • Aurora, Colorado • Miami, Florida + 10 more
Source: ClinicalTrials.gov public record
Updated Nov 17, 2023 · Synced Jul 21, 2026, 11:22 AM EDT
Completed Phase 3 Interventional Results available

Study to Compare the Efficacy and Safety of Oral AT1001 and Enzyme Replacement Therapy in Patients With Fabry Disease

NCT01218659
View directory record Official record
Conditions
Fabry Disease
Interventions
migalastat hydrochloride, agalsidase
Drug · Biological
Lead sponsor
Amicus Therapeutics
Industry
Eligibility
16 Years to 74 Years
Enrollment
68 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2015
U.S. locations
8
States / cities
Los Angeles, California • Aurora, Colorado • Decatur, Georgia + 5 more
Source: ClinicalTrials.gov public record
Updated Oct 31, 2018 · Synced Jul 21, 2026, 11:22 AM EDT
Completed Phase 3 Interventional Results available

Study Evaluating the Long-term Safety and Efficacy of VX-445 Combination Therapy

NCT04058366
View directory record Official record
Conditions
Cystic Fibrosis
Interventions
ELX/TEZ/IVA, IVA
Drug
Lead sponsor
Vertex Pharmaceuticals Incorporated
Industry
Eligibility
12 Years and older
Enrollment
251 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2022
U.S. locations
33
States / cities
Tucson, Arizona • Long Beach, California • Palo Alto, California + 28 more
Source: ClinicalTrials.gov public record
Updated Jan 15, 2024 · Synced Jul 21, 2026, 11:22 AM EDT
Active, not recruiting Phase 3 Interventional

Sacituzumab Tirumotecan (MK-2870) Versus Chemotherapy in Previously Treated Advanced or Metastatic Nonsquamous Non-small Cell Lung Cancer (NSCLC) With EGFR Mutations or Other Genomic Alterations (MK-2870-004)

NCT06074588
View directory record Official record
Conditions
Non-small Cell Lung Cancer (NSCLC)
Interventions
Sacituzumab tirumotecan, Docetaxel, Pemetrexed
Biological · Drug
Lead sponsor
Merck Sharp & Dohme LLC
Industry
Eligibility
18 Years and older
Enrollment
556 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2030
U.S. locations
15
States / cities
Los Angeles, California • Jacksonville, Florida • Orange City, Florida + 12 more
Source: ClinicalTrials.gov public record
Updated Jul 16, 2026 · Synced Jul 21, 2026, 11:22 AM EDT
Recruiting Phase 1 Interventional Accepts healthy volunteers

Imatinib to Increase RUNX1 Activity in Participants With Germline RUNX1 Deficiency

NCT06090669
View directory record Official record
Conditions
Inherited Bone Marrow Failure Syndrome, Familial Platelet Disorder With Predisposition to Myeloid Malignancies
Interventions
imatinib, TruSight Oncology
Drug · Device
Lead sponsor
National Cancer Institute (NCI)
NIH
Eligibility
18 Years to 120 Years
Enrollment
75 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2023 – 2027
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Jul 20, 2026 · Synced Jul 21, 2026, 11:22 AM EDT
Completed Early Phase 1 Interventional Accepts healthy volunteers

Pilot Study: The Effect of Ergocalciferol on Plasma Mucin-1 Levels

NCT03747523
View directory record Official record
Conditions
Ergocalciferol
Interventions
Ergocalciferol
Drug
Lead sponsor
Wake Forest University Health Sciences
Other
Eligibility
18 Years to 65 Years
Enrollment
44 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2019 – 2020
U.S. locations
1
States / cities
Winston-Salem, North Carolina
Source: ClinicalTrials.gov public record
Updated Oct 28, 2020 · Synced Jul 21, 2026, 11:22 AM EDT
Not yet recruiting Phase 1Phase 2 Interventional

Upadacitinib in Treatment of JAK/STAT Pathway Disorders With Activating Mutations

NCT07670156
View directory record Official record
Conditions
JAK1 GOF, STAT1 GOF, STAT3 GOF, STAT5B GOF, STAT6 GOF
Interventions
Upadacitinib, Placebo
Drug
Lead sponsor
Lisa Satter
Other
Eligibility
12 Years to 65 Years
Enrollment
30 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2028
U.S. locations
3
States / cities
St Louis, Missouri • New York, New York • Houston, Texas
Source: ClinicalTrials.gov public record
Updated Jul 1, 2026 · Synced Jul 21, 2026, 11:22 AM EDT
Not listed Not applicable Interventional

Pharmacogenetic Decision Support IT System for Psychiatric Hospitalization: RCT

NCT02120729
View directory record Official record
Conditions
Major Depressive Disorder
Interventions
Genotype-guided care
Other
Lead sponsor
Hartford Hospital
Other
Eligibility
18 Years to 95 Years
Enrollment
1,500 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2019
U.S. locations
1
States / cities
Hartford, Connecticut
Source: ClinicalTrials.gov public record
Updated Feb 11, 2019 · Synced Jul 21, 2026, 11:22 AM EDT
Completed Phase 1Phase 2 Interventional Results available

BGB-290 and Temozolomide in Treating Patients With Recurrent Gliomas With IDH1/2 Mutations

NCT03914742
View directory record Official record
Conditions
IDH1 Mutation, IDH2 Mutation, Recurrent Glioblastoma, Recurrent WHO Grade II Glioma, Recurrent WHO Grade III Glioma
Interventions
PARP Inhibitor BGB-290, Temozolomide, Therapeutic Conventional Surgery
Drug · Procedure
Lead sponsor
Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins
Other
Eligibility
18 Years and older
Enrollment
67 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2023
U.S. locations
12
States / cities
Birmingham, Alabama • Los Angeles, California • New Haven, Connecticut + 9 more
Source: ClinicalTrials.gov public record
Updated Jan 13, 2025 · Synced Jul 21, 2026, 11:22 AM EDT
Completed Phase 3 Interventional Results available

A Study to Evaluate the Efficacy and Safety of Lumacaftor in Combination With Ivacaftor in Subjects With CF, Homozygous for the F508del-CFTR Mutation

NCT02514473
View directory record Official record
Conditions
Cystic Fibrosis
Interventions
VX-809, Placebo, VX-770
Drug
Lead sponsor
Vertex Pharmaceuticals Incorporated
Industry
Eligibility
6 Years to 11 Years
Enrollment
206 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2016
U.S. locations
29
States / cities
Birmingham, Alabama • Los Angeles, California • Palo Alto, California + 26 more
Source: ClinicalTrials.gov public record
Updated Oct 22, 2017 · Synced Jul 21, 2026, 11:22 AM EDT
Completed No phase listed Observational

Natural History Study of Patients With X-linked Retinal Dystrophy Associated With Mutations in Retinitis Pigmentosa GTPase Regulator (RPGR)

NCT03349242
View directory record Official record
Conditions
Retinitis Pigmentosa
Interventions
Not listed
Lead sponsor
MeiraGTx UK II Ltd
Industry
Eligibility
5 Years and older
Enrollment
140 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2024
U.S. locations
6
States / cities
La Jolla, California • Stanford, California • Atlanta, Georgia + 3 more
Source: ClinicalTrials.gov public record
Updated Jun 19, 2024 · Synced Jul 21, 2026, 11:22 AM EDT
Completed No phase listed Observational

Evolution of L74V or K65R Mutations in VIremic Subjects on Tenofovir Disoproxil Fumarate (TDF) or Abacavir (ABC) (EVITA)

NCT00312169
View directory record Official record
Conditions
HIV Infections
Interventions
Not listed
Lead sponsor
Orlando Immunology Center
Other
Eligibility
18 Years and older
Enrollment
20 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2006 – 2008
U.S. locations
11
States / cities
Fresno, California • Los Angelos, California • Tarzana, California + 7 more
Source: ClinicalTrials.gov public record
Updated May 21, 2008 · Synced Jul 21, 2026, 11:22 AM EDT
Terminated No phase listed Observational

Natural History of Autosomal Dominant Optic Atrophy (ADOA), Caused by OPA1 Mutation

NCT06140329
View directory record Official record
Conditions
Autosomal Dominant Optic Atrophy, Optic Atrophy, Autosomal Dominant, Optic Atrophies, Hereditary, Kjer Optic Atrophy
Interventions
Not listed
Lead sponsor
PYC Therapeutics
Industry
Eligibility
8 Years and older
Enrollment
1 participant
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2025
U.S. locations
2
States / cities
Miami, Florida • Seattle, Washington
Source: ClinicalTrials.gov public record
Updated Mar 13, 2025 · Synced Jul 21, 2026, 11:22 AM EDT
Completed Phase 2 Interventional Results available

Phase II Trial to Correlate Radiographic Response Induced By Gefitinib With Mutations in the Protein-Tyrosine Kinase Domain of the EGF Receptor Gene

NCT00588445
View directory record Official record
Conditions
Lung Cancer, Non-small Cell Lung Cancer, Bronchioloalveolar Cancer
Interventions
Gefitinib
Drug
Lead sponsor
Memorial Sloan Kettering Cancer Center
Other
Eligibility
18 Years and older
Enrollment
65 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2004 – 2010
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated Jan 21, 2016 · Synced Jul 21, 2026, 11:22 AM EDT
Recruiting Phase 1Phase 2 Interventional

A Study Evaluating FMC-376 in Participants With KRAS G12C Mutated Solid Tumors

NCT06244771
View directory record Official record
Conditions
Advanced Solid Tumors With KRAS G12C Mutations, Solid Tumor, Adult, Unresectable Solid Tumor, Metastatic Solid Tumor, Non Small Cell Lung Cancer, Colorectal Cancer, KRAS G12C, Pancreatic Cancer
Interventions
FMC-376
Drug
Lead sponsor
Frontier Medicines Corporation
Industry
Eligibility
18 Years and older
Enrollment
403 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2028
U.S. locations
15
States / cities
La Jolla, California • Orange, California • San Francisco, California + 11 more
Source: ClinicalTrials.gov public record
Updated Mar 17, 2026 · Synced Jul 21, 2026, 11:22 AM EDT