Gene Mutation Clinical Trials

138 recruitingLast updated: June 18, 2026

There are 138 actively recruiting gene mutation clinical trials across 36 countries. Studies span Phase 2, Phase 1, Not Applicable, Phase 3, Early Phase 1, Phase 4. Top locations include Boston, Massachusetts, United States, New York, New York, United States, Houston, Texas, United States. Updated daily from ClinicalTrials.gov.


Gene Mutation Trials at a Glance

138 actively recruiting trials for gene mutation are listed on ClinicalTrialsFinder across 6 cities in 36 countries. The largest study group is Phase 2 with 50 trials, with the heaviest enrollment activity in Boston, New York, and Houston. Lead sponsors running gene mutation studies include M.D. Anderson Cancer Center, Dana-Farber Cancer Institute, and Memorial Sloan Kettering Cancer Center.

Browse gene mutation trials by phase

Treatments under study

About Gene Mutation Clinical Trials

Looking for clinical trials for Gene Mutation? There are currently 1 studies actively recruiting participants. Clinical trials offer access to new treatments before they are widely available, and every approved therapy in use today was first tested through a clinical trial.

Below you can browse trials, sign up for alerts when new Gene Mutation trials open, and view eligibility criteria for each study. Each listing includes the study phase, locations, and enrollment details.

Frequently Asked Questions

Common questions about Gene Mutation clinical trials

A clinical trial is a carefully designed research study that tests new medical treatments, drugs, devices, or approaches in human volunteers. Every approved medication and treatment available today was proven safe and effective through clinical trials.

All clinical trials are reviewed and approved by Institutional Review Boards (IRBs) — independent committees that evaluate patient safety. Trials follow strict protocols, and your health is monitored closely throughout. You can withdraw at any time.

Not necessarily. Many trials compare the new treatment against the current standard of care, meaning all participants receive active treatment. When placebos are used, they are typically combined with standard treatment, not given alone. The trial description will always specify the design.

Under the Affordable Care Act, most private insurers are required to cover routine patient care costs during a clinical trial. The sponsor typically covers the investigational treatment itself. Medicare also covers routine costs for qualifying trials.

Yes. Participation is completely voluntary. You can withdraw at any time, for any reason, without it affecting your access to standard medical care.

Each trial has specific eligibility criteria — including age, diagnosis, disease stage, prior treatments, and general health. Browse the trials listed above and check their eligibility sections. You can also contact the trial site directly to discuss your situation.

Showing 120 of 138 trials

Recruiting
Phase 2

Efficacy and Safety of TYRA-300 in Participants With FGFR3 Altered Low Grade, Intermediate Risk Non-Muscle Invasive Bladder Cancer

Low-grade NMIBCFGFR Gene AmplificationFGFR Gene Alterations+3 more
Tyra Biosciences, Inc90 enrolled42 locationsNCT06995677
Recruiting
Phase 1Phase 2

Phase 1/2 Trial of S241656 in Selected RAS/MAPK Mutation- Positive Malignancies

Colorectal, CancerColorectal CarcinomaNon-small Cell Lung Cancer+29 more
Institut de Recherches Internationales Servier554 enrolled27 locationsNCT05786924
Recruiting
Phase 3

Trial Investigating the Efficacy and Safety of Weekly Lonapegsomatropin Compared to Daily Somatropin in Children and Adolescents With Short Stature or Growth Failure Due to Growth Hormone Sufficient Disorders

Turner SyndromeIdiopathic Short StatureShort Stature Homeobox Gene Mutation+1 more
Ascendis Pharma A/S186 enrolled19 locationsNCT07221851
Recruiting
Phase 2

PhII Randomized CAPecitabine + ELAcestrant vs. Capecitabine Alone in ER+ Breast Cancer (CAPELA)

Breast CancerMetastatic Breast CancerBreast Neoplasms+6 more
Kristina A. Fanucci297 enrolled1 locationNCT07222215
Recruiting
Phase 2

CPX-351 and Ivosidenib for the Treatment of IDH1 Mutated Acute Myeloid Leukemia or High-Risk Myelodysplastic Syndrome

Myelodysplastic SyndromeMyeloproliferative NeoplasmRecurrent Acute Myeloid Leukemia+2 more
M.D. Anderson Cancer Center30 enrolled1 locationNCT04493164
Recruiting
Phase 1Phase 2

Open-label Study of SKY-GJB2 in Pediatric Subjects With GJB2-mediated Hearing Loss

DFNB1AGJB2 Gene MutationGJB2-mediated Hearing Loss
Skylark Bio Inc.10 enrolled2 locationsNCT07627971
Recruiting
Phase 1

A Phase 1 Study of EPI-326 in EGFR-mutant NSCLC and HNSCC

Head and NeckHead and Neck Squamous Cell Carcinoma (HNSCC)Head and Neck Cancer+12 more
EpiBiologics110 enrolled6 locationsNCT07462377
Recruiting

Analysis of Lumbar Spine Stenosis Specimens for Identification of Transthyretin Cardiac Amyloidosis

Cardiac AmyloidosisCardiomyopathy, HypertrophicLumbar Spinal Stenosis+3 more
Columbia University1,663 enrolled6 locationsNCT06034405
Recruiting
Phase 2

Vismodegib, FAK Inhibitor GSK2256098, Capivasertib, and Abemaciclib in Treating Patients With Progressive Meningiomas

Intracranial MeningiomaRecurrent MeningiomaNF2 Gene Mutation
Alliance for Clinical Trials in Oncology124 enrolled780 locationsNCT02523014
Recruiting

Natural History in Children up to 16 Years With Mild to Profound Hearing Loss Due to Mutations in GJB2 / OTOF Genes

OTOF Gene MutationDFNB9Congenital Deafness+4 more
Sensorion180 enrolled1 locationNCT05402813
Recruiting
Phase 2

A Study of Pembrolizumab With Trastuzumab and Chemotherapy in People With Esophagogastric Cancer

Esophageal CancerGastric AdenocarcinomaHER2 Gene Mutation
Memorial Sloan Kettering Cancer Center49 enrolled10 locationsNCT06123338
Recruiting

Programmed Cell Death Ligand 1 PET/CT in Various PD-L1-Related Disease Patients

PD-L1 Gene MutationPositron Emission TomographyPD-L1 Gene Amplification+1 more
Tianjin Medical University500 enrolled2 locationsNCT07618936
Recruiting
Phase 1

Olaparib and ASTX727 in BRCA1/2- and Homologous Recombination Deficient (HRD)-Mutated Tumors

BRCA MutationBRCA1 MutationBRCA2 Mutation+3 more
Varun Monga, MBBS18 enrolled1 locationNCT06177171
Recruiting
Not Applicable

COsegregation of VARiants in Panel of Genes

Genetic PredispositionGene Mutation-Related Cancer
Institut Curie11,000 enrolled62 locationsNCT01689584
Recruiting
Phase 2

PH 2 Pemigatinib in SDH-deficient GIST

SDH Gene MutationGastrointestinal Stromal Tumor
Dana-Farber Cancer Institute24 enrolled1 locationNCT07434843
Recruiting
Phase 2

Personalized NK Cell Therapy in CBT

Acute Lymphoblastic LeukemiaMyelodysplastic SyndromeChronic Myelomonocytic Leukemia+23 more
M.D. Anderson Cancer Center100 enrolled1 locationNCT02727803
Recruiting
Phase 2Phase 3

Spironolactone Improved Children With Gene Mutations Related to NCOR

ASDNCOR Gene MutationsSpironolactone
Qilu Hospital of Shandong University2 enrolled1 locationNCT06678685
Recruiting
Phase 1Phase 2

The Efficacy of Triple Regimen in Newly Diagnosed AML Patients With FLT3 Mutation

AMLFLT3 Gene Mutation
Institute of Hematology & Blood Diseases Hospital, China66 enrolled1 locationNCT06561880
Recruiting
Phase 2

A Phase II Study of Pemigatinib Plus Durvalumab in Previously Treated Advanced Intrahepatic Cholangiocarcinoma Patients With FGFR-2 Fusion or Rearrangement

Intrahepatic CholangiocarcinomaFGFR2 Gene RearrangementFGFR2 Gene Mutation
Mehmet Akce38 enrolled2 locationsNCT06728410
Recruiting
Phase 2

Safety, Tolerability and Efficacy Study of ARCT-032 in People With Cystic Fibrosis

Cystic FibrosisCFTR Gene Mutation
Arcturus Therapeutics, Inc.33 enrolled13 locationsNCT06747858