Clinical trials · Boston, MA
Genetic Disease clinical trials in Boston
We’re tracking 22 recruiting genetic disease studies with a site in or near Boston — including Phase 1/Phase 2, Phase 2, Phase 2/Phase 3 and Phase 4 studies, each written for real people, not researchers.
Recruiting studies near Boston
- NCT06644742Recruiting
PKP2 heart condition natural history study
This study is for people with a specific genetic heart condition (PKP2-related arrhythmogenic cardiomyopathy) who already have an ICD. It does not test a new treatment but instead follows participants over time to learn more about the condition.
Boston, MassachusettsAges 12 years+ - NCT05129605Recruiting
Prostate cancer genetic risk screening study for men
This study looks at your personal and family risk for prostate cancer and helps decide who should have extra screening like MRI. It may help you find cancer earlier if you are at higher genetic risk.
Boston, MassachusettsAges 35–74 - NCT04994015RecruitingTeam says not enrolling
Genetic registry for people with Parkinson’s
This study builds a genetics “registry” of people diagnosed with Parkinson’s disease who agree to genetic testing. Your information may help researchers understand why Parkinson’s happens and improve future treatments.
Boston, MassachusettsAges 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.
Boston, MassachusettsAges 12 years+ - NCT05432349Recruiting
Rett syndrome genetic registry for MECP2 changes
This trial is a registry that collects health and genetic information from people with Rett syndrome. It may help researchers better understand how MECP2 loss-of-function changes lead to symptoms and how to support patients.
Boston, MassachusettsAges birth–99 years - NCT06369974Enrolling by invitationPhase 1/Phase 2
Experimental ASO treatment for TUBB4A-related leukodystrophy
This trial tests a single patient's response to an experimental genetic treatment (called an ASO) for a rare brain disease caused by changes in the TUBB4A gene. The goal is to see if the treatment can improve symptoms related to the condition H-ABC.
Boston, MassachusettsAges 4 years+ - NCT06003153RecruitingPhase 4
Gene and sugar response study with oral semaglutide
This study looks at how your genes affect your body's response to a diabetes medication called semaglutide. It may help people with slightly high blood sugar (pre-diabetes) understand why some respond better than others.
Boston, MassachusettsAges 18–65 - NCT05589714Recruiting
Study your rare eye gene and track retinal disease over time
This study builds a registry and tracks the natural history of rare retinal dystrophies while also testing people for disease-causing gene variants. It may help researchers better understand what causes retinal degeneration and how it progresses.
Boston, MassachusettsAges 4 years+ - NCT05799118Recruiting
Genetic modifiers study for inherited blood disorders
This study looks at how your genes can affect inherited blood conditions like sickle cell disease and thalassemia. It may help researchers understand why symptoms differ from person to person, which could guide better future treatments.
Boston, MassachusettsAges 2 years+ - NCT05587439Recruiting
Study of inherited genetic risk in lung and related cancers
This study looks for inherited (family-passed) genetic changes that may raise the risk of lung cancer and related thoracic cancers. It may help people and families understand their genetic risk by collecting health information and sometimes specimens from patients and relatives.
Boston, MassachusettsAges 18 years+ - NCT01258231Recruiting
Genetic test to predict risks after heart surgery
This study looks for genetic (DNA) clues that may help predict side effects or complications after heart surgery. If you join, your genome information may be used to understand who is at higher risk and why.
Boston, MassachusettsAges 20–90 - NCT01193088Recruiting
Study genetics to find who modifies Charcot-Marie-Tooth (CMT)
This study looks at DNA changes in families with Charcot-Marie-Tooth (CMT), especially a known gene duplication called PMP22. It aims to understand what other genetic factors may change how CMT shows up, which could help future diagnosis and care.
Boston, MassachusettsAges Any age - NCT01694940Recruiting
Mitochondrial disease registry and sample collection study
This trial builds a large database and collection of lab results, and possibly tissue samples, from people with suspected or diagnosed mitochondrial conditions. It helps researchers learn more about these disorders and mitochondrial DNA changes, which may improve future diagnosis and treatments.
Boston, MassachusettsAges Any age - NCT00272883Recruiting
Study genes in congenital muscle weakness
This research study looks at genes and molecules to better understand congenital myopathies (birth-related muscle weakness). It may help explain the cause of symptoms and improve future diagnoses for you and your family.
Boston, MassachusettsAges Any age - NCT07112287Recruiting
Germline testing for myeloid cancer risk
This trial studies whether certain inherited genes increase the risk of myeloid cancers or bone marrow failure. You will provide a DNA sample via a skin biopsy to look for these genetic changes.
Boston, MassachusettsAges 18 years+ - NCT02450851Recruiting
Find answers for undiagnosed medical conditions using genetic testing
This study helps look for causes of health problems when no one has been able to give a diagnosis. It tests and shares medical and genetic information (with privacy protections) so researchers can better match findings to possible causes.
Boston, MassachusettsAges 1 month–100 years - NCT04472338Recruiting
Prostate cancer screening for people with higher genetic risk
This study looks at prostate cancer screening for people who may be at higher risk because of a specific inherited (genetic) change. It may help your care team find the best screening approach to catch aggressive prostate cancer earlier.
Boston, MassachusettsAges 40 years+ - NCT05528744Recruiting
Study genes and symptoms in ANKRD17-related CAGS
This study looks at how a specific gene change in ANKRD17 relates to the symptoms, brain/scan findings, and brain-cells in people with Chopra-Amiel-Gordon syndrome (CAGS). It may help families understand the condition better and connect gene results to what is seen clinically.
Boston, MassachusettsAges Any age - NCT06144957Enrolling by invitation
SLC13A5 deficiency natural history study (US only)
This study follows people with SLC13A5 deficiency (a rare genetic condition that affects brain development) to learn more about the disease over time. It collects health information, assessments, and samples to help understand the condition and plan future treatments.
Providence, Rhode IslandAges Any age - NCT06647498RecruitingPhase 2/Phase 3
Study of a treatment for early-onset Alzheimer's caused by a gene change
This study tests a potential disease-modifying treatment for people who have a specific gene mutation that causes early-onset Alzheimer's disease. The goal is to see if the treatment can delay or prevent symptoms.
Providence, Rhode IslandAges 18 years+ - NCT05552157RecruitingPhase 2/Phase 3
Study of treatments for early onset Alzheimer's caused by genetic mutations
This trial tests potential treatments for people who are at risk for or have early onset Alzheimer's disease due to a specific genetic mutation. It aims to find treatments that could slow or prevent symptoms.
Providence, Rhode IslandAges 18 years+ - NCT06278337Recruiting
Moesin-associated immunodeficiency study
This study looks at a rare immune system condition caused by changes in the MOESIN gene. It aims to better understand the condition and may help develop future treatments.
Providence, Rhode IslandAges 4–80
Hear when a new Genetic Disease trial opens near Boston, MA
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Genetic Disease trials in other cities
Where these studies are running near Boston
Institutions with a site for the recruiting genetic disease studies listed above.
- Massachusetts General Hospital · 9 studies
- Boston Children's Hospital · 6 studies
- Brigham and Women's Hospital · 3 studies
- Brown University · 2 studies
- Butler Hospital · 2 studies
- Dana-Farber Cancer Institute · 2 studies
- Beth Israel Deaconess Medical Center
- Boston Medical Center
What taking part in a genetic disease study involves
A screening visit first
Before anything else, the study team checks whether you fit — usually a visit with some tests. You can stop at any point, and screening is typically free.
Care at a nearby site
Study visits happen at a clinic or hospital taking part. Many studies cover the cost of the study treatment and related visits, and some reimburse travel.
You stay in control
Taking part is voluntary and you can leave a study at any time, for any reason, without affecting your regular care.
The team decides eligibility
Our fit check is a helpful first read, not a decision. The study team makes the final call after reviewing your health history.
Looking wider? See all recruiting genetic disease studies in Massachusetts.
Common questions
- Are there genetic disease clinical trials near Boston?
- Yes. We're currently tracking 22 recruiting genetic disease studies with a site near Boston, each rewritten in plain language so you can see what it's testing and who it's for.
- How do I find out if I qualify for a genetic disease study near Boston?
- Each study lists its eligibility rules — age, diagnosis, prior treatments. On every trial page we explain these in plain language and offer a short, optional pre-screen for a fit read. The study team makes the final decision.
- Do I have to live in Boston to take part?
- Not necessarily. These studies have a site near Boston, but eligibility is about your health, not your address — some people travel to take part, and a few studies reimburse travel. The study team can tell you what's required.
- Does it cost anything to join a genetic disease trial?
- Using Clin2 is always free. Many trials cover the study treatment and related visits; some reimburse travel. The study team explains exactly what's covered before you decide.
Not the right time?
New genetic disease studies open near Boston regularly. Set up a health profile and we’ll quietly watch for studies that fit you and email you when one opens.