Clinical trials
Genetic Mutations clinical trials
Below are recruiting genetic mutations clinical trials, each written for real people, not researchers. We’re tracking 45 recruiting studies, each written for real people, not researchers, below.
Recruiting studies
- NCT01060371Recruiting
Study of genetic causes of spinocerebellar ataxia
This study follows people with certain types of spinocerebellar ataxia (a group of conditions that cause progressive movement problems) to understand how the disease changes over time and how genes might influence it. It may help researchers learn more about these conditions and support future treatments.
Los Angeles, CaliforniaAges 6 years+ - NCT06020625Recruiting
Genetic testing for advanced cancers
This trial investigates genetic testing (mutational profiling) in people with various advanced cancers. It aims to understand how these tests can guide more personalized treatment decisions.
RomeAges 18 years+ - NCT04151342Recruiting
Study of Canadian adults with cancer rare DNA changes
This real-world study follows adults in Canada who have cancer that was tested and found to have rare molecular (DNA/protein) changes. It helps researchers understand how these rare findings show up and how care happens in everyday practice.
Calgary, AlbertaAges 18 years+ - NCT07419893Recruiting
Study of TP53 gene test results
This study looks at results from people who have already had TP53 gene testing through IEO’s genetics clinic. It helps doctors learn more about how this gene relates to cancer risk.
MilanAges 18–90 - NCT06393894Recruiting
Latvian Early Atherosclerosis Registry Study
This study is gathering information from people with early heart artery blockages (occurring before age 55 for men or 65 for women) who need or have had treatment like stents or bypass. It helps doctors understand long-term outcomes.
RigaAges 18–65 - NCT05584722Recruiting
Study risk and resilience in pulmonary arterial hypertension
This study looks at how people with pulmonary arterial hypertension (PAH) and certain genetic risks cope and how their bodies respond over time. It may help researchers understand factors linked to better or worse outcomes, and how different people manage the condition.
Nashville, TennesseeAges 15–80 - NCT03667417Recruiting
Study of people with BRCA1/BRCA2 cancer gene changes
This study follows people who carry a harmful BRCA1 or BRCA2 gene mutation, whether or not they currently have breast or ovarian cancer. The goal is to better understand cancer risk over time and how being a carrier may affect screening and care.
MarseilleAges 18 years+ - NCT01443468Recruiting
Study of Li-Fraumeni syndrome family cancer risk
This study collects medical and genetic information to better understand how often cancer develops in people with Li-Fraumeni syndrome and related family risks. It may help families and doctors plan earlier awareness and follow-up over a person’s lifetime.
Bethesda, MarylandAges Any age - NCT07493096Recruiting
Intensive therapy program for children with brain-based conditions
This trial tests an intensive therapy program designed to help children with brain-based conditions like cerebral palsy or autism improve their skills in movement, thinking, and daily activities. The program runs for 2 weeks with daily sessions, and researchers will check for changes in your child's abilities.
The Woodlands, TexasAges 4–12 - NCT07499271RecruitingPhase 2
Targeted therapy for newly diagnosed DLBCL with TP53 mutation
This trial tests a targeted therapy designed to match the specific genetic subtype of DLBCL that has a TP53 mutation. It may offer a more effective treatment option for people whose cancer has this genetic change.
Suzhou, JiangsuAges 18–70 - NCT06917794Enrolling by invitation
Genetic risk study for colon cancer patients
This study looks at how your genetic background and ancestry affect your risk for colon cancer. If you have been diagnosed with colon cancer and have a tumor sample available, you may be able to help researchers develop better risk scores.
Fortaleza, CearáAges 18 years+ - NCT04924075RecruitingPhase 2
Belzutifan for cancers linked to VHL or HIF-2α changes
This Phase 2 study tests belzutifan (MK-6482) to treat certain advanced cancers caused by specific gene or disease changes, including VHL-related tumors and HIF-2α related tumors. It may help shrink tumors or slow their growth in people whose cancer matches these genetic or disease patterns.
Los Angeles, CaliforniaAges 12 years+ - NCT06449989Recruiting
Comparing genetics of colorectal cancer and its brain spread
This study compares the genetics of the original colorectal cancer with the cancer that has spread to the brain. It aims to understand how the tumor changes when it metastasizes, which may help guide future treatments.
Moscow, MoscowAges 18 years+ - NCT06450964Enrolling by invitation
Studying Mitochondrial Disease to Improve Genetic Counseling
This study aims to learn more about mitochondrial DNA diseases by building a group of people with these conditions. The information gathered may help doctors give better genetic counseling to families.
Hefei, AnhuiAges Any age - NCT05230459RecruitingPhase 1/Phase 2
Safety study of a gene therapy for LGMD2I/R9
This trial tests the safety of AB-1003 (a gene therapy) in adults with a confirmed genetic form of LGMD2I/R9 caused by an FKRP gene mutation. It may help researchers learn whether the treatment is safe and how it affects the body in people with this condition.
Irvine, CaliforniaAges 18–65 - NCT07587242RecruitingPhase 3
Testing a New Therapy for DMD with Exon 44 Mutations
This study tests whether a new medicine called AOC 1044 (delpacibart zotadirsen) can help boys with Duchenne muscular dystrophy (DMD) who have a specific genetic mutation. The medicine works by helping the body skip a damaged part of the gene to make a functional protein.
LeuvenAges 7–16 - NCT05703126Recruiting
Blood vessel and heart strength tests in AML patients
This study looks at how well your blood vessels and heart pumping ability work in people with acute myeloid leukemia (AML) receiving certain chemotherapy. It may help doctors better understand heart risk during treatment and tailor monitoring to you.
Samara, Samara OblastAges 18–65 - NCT00280202Recruiting
Find lung cancer genetic markers from tissue samples
This study looks for specific genetic markers of lung cancer by testing tissue taken from a lung mass. It may help doctors detect and better understand lung cancer based on genetic clues.
Pittsburgh, PennsylvaniaAges 18 years+ - NCT01238250Recruiting
Online autism genetics study for families with certain genetic changes
This study asks people with specific genetic changes linked to autism and their family members to complete online tasks and questionnaires. It may help researchers better understand how these genetic differences relate to autism traits.
Boston, MassachusettsAges Any age - NCT01793168Recruiting
Rare disease registry and history study
This study keeps a registry (a structured list) of people with rare diseases and may also track how the condition changes over time. It can help researchers better understand rare illnesses and find gaps in care, which may improve future treatments.
Sioux Falls, South DakotaAges Any age - NCT05564377RecruitingPhase 2
Find targeted cancer treatments using genetic testing
This study matches people with advanced solid tumors to targeted treatment plans based on genetic testing. It also requires tumor sample testing to help doctors choose the most promising therapy for your specific tumor changes.
Birmingham, AlabamaAges Any age
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Common questions
- Are there clinical trials for genetic mutations?
- Yes. Clin2 currently lists 45 recruiting genetic mutations studies from the U.S. registry, each rewritten for real people, not researchers, so you can see what it’s testing and who it’s for.
- How do I know if I qualify for a genetic mutations trial?
- Each study lists its eligibility criteria — rules about age, diagnosis, and prior treatments. On every Clin2 trial page we explain these in words written for real people and offer a short, optional pre-screen for a fit read. The study team makes the final decision.
- Does it cost anything to join a genetic mutations trial?
- Using Clin2 is always free. Many trials cover the cost of the study treatment and related visits; some reimburse travel. The study team explains exactly what’s covered before you decide.
Related conditions
Clin2 helps you find and understand clinical trials and does not provide medical advice. Study data comes from ClinicalTrials.gov. Talk with your doctor about whether a specific trial is right for you.