Clinical trials
Genetic Disease clinical trials
Below are recruiting genetic disease clinical trials, each written for real people, not researchers. We’re tracking 224 recruiting studies, each written for real people, not researchers, below.
Recruiting studies
- NCT02551081Recruiting
Genetic testing to guide care for newborn birth defects
This trial uses genetic testing to better understand the cause of a newborn’s birth defect and to help doctors choose more personalized treatment. It may help families get clearer answers and more targeted care.
Shanghai, Shanghai MunicipalityAges Up to 4 weeks - NCT02917460Recruiting
Join a children’s genomic sample and data library
This study collects and stores DNA samples and related health information from people of all ages. It helps researchers understand childhood diseases better and may support future discoveries and treatments.
San Diego, CaliforniaAges Any age - NCT03291392Recruiting
CUHK stroke biobank for blood, fluid, and tissue samples
This study builds a research bank using samples from people with stroke, their family members, and some people without narrowing in their blood vessels. Your samples help researchers study stroke and related brain and vessel changes.
Hong KongAges 18 years+ - NCT06497673Enrolling by invitation
Human cell atlas building project
This study is building a detailed map of human cells using samples from people of all ages, both healthy and with various conditions. It aims to understand how cells work in health and disease, which could lead to better treatments.
CambridgeAges Any age - 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+ - NCT05656261Recruiting
Genetic testing study for African Americans
This study looks at genetic markers (genes) related to kidney risk in Black/African American adults. It may help researchers better understand who is at higher risk and how genetics could guide future care.
St Louis, MissouriAges 18–90 - NCT06004349Recruiting
Genetic study of autoinflammatory diseases
This study looks for genes linked to autoinflammatory diseases like VEXAS syndrome. You or your family member can join by mailing in a blood or saliva sample to help researchers better understand these conditions.
New York, New YorkAges 1 month+ - NCT01192048Recruiting
Study genetics in congenital heart disease
This study looks at how genes may contribute to congenital heart disease. It may help researchers better understand causes and risk in families like yours.
Columbus, OhioAges Any age - NCT06803784Recruiting
Bioproducts in body fluids for early brain disease detection
This study is looking for proteins in blood and other body fluids that could help detect brain diseases like Parkinson's, Alzheimer's, and ALS early. It aims to improve diagnosis and future treatments.
Pozzilli, ItalyAges 20 years+ - NCT07206095Recruiting
Better diagnosis for inherited red blood cell diseases
This trial aims to improve how doctors diagnose rare inherited anemias, including sickle cell disease and other conditions that destroy red blood cells. It may help if you have a confirmed or suspected diagnosis but need more clarity through advanced testing.
Barcelona, BarcelonaAges Any age - NCT02077894Recruiting
Genetic testing to help identify inherited eye conditions
This study uses whole exome and whole genome genetic tests to look for DNA changes linked to inherited or congenital eye problems. It may help families and doctors better understand the cause of the eye condition and guide future care.
Bethesda, MarylandAges 1 day–120 years - NCT04528498Recruiting
Embryo health study for IVF using PGT-A testing
This study looks at embryo health using a DNA test called PGT-A for couples having IVF. It may help researchers better understand what the test can and cannot tell about which embryos are healthiest.
North Brunswick, New JerseyAges 18 years+ - 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.
Little Rock, ArkansasAges 4 years+ - NCT06374719Recruiting
TNNT1 myopathy natural history study
This study follows people with a rare genetic muscle condition called TNNT1 myopathy over time. Researchers will track how the disease progresses to better understand it and help plan future treatments.
Gordonville, PennsylvaniaAges Any age - NCT07391293Recruiting
Genetic aortic diseases and heart risks observational study
This study looks at people with genetic aortic diseases to understand risk factors for heart complications. By joining, you help researchers learn more about these conditions and how to better manage them.
MilanAges 14–60 - 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.
San Diego, CaliforniaAges Any age - NCT03538639Recruiting
Study blood and tissue samples for vascular disease discovery
This study collects blood (and sometimes tissue samples) from people who may have vascular (blood vessel) problems and from certain pregnant participants. Researchers use the samples to better understand vascular disease and to help guide future research.
Bethesda, MarylandAges 2–100 - NCT00138931Recruiting
Study genetics of inherited heart and muscle conditions
This study looks at genetic causes of inherited heart (cardiovascular) and muscle/nerve (neuromuscular) conditions. You may be asked about your family history and possibly genetic samples to help connect symptoms to specific genetic changes.
Chicago, IllinoisAges Any age - NCT04905537Recruiting
Genetic screening for newborns after a serious pregnancy loss
This trial looks at doing early genetic testing in newborns/early life cases after a serious pregnancy loss, to learn whether genetics can help understand why it happened. If you have the right timing and sample availability, the results may help future “more precise” care planning and research.
Shanghai, Shanghai MunicipalityAges Up to 3 months - NCT07181213Enrolling by invitation
Genetic links to high blood pressure
This trial is for people who took part in a large study (SCAPIS) and have both a certain genetic trait and high blood pressure. The goal is to understand how your genes may affect blood pressure.
Linköping, Östergötland CountyAges 50 years+ - NCT06431425Recruiting
Online genetic counseling clinic for inherited heart conditions
This trial tests an online genetic counseling clinic for people with certain inherited heart muscle diseases and their family members. It aims to provide presymptomatic counseling (before symptoms appear) through video calls, making it easier to access care from home.
Utrecht, UtrechtAges 18–90 - NCT05746715Recruiting
Study of people at risk for inherited CJD before symptoms
This study follows people who have a close family member with inherited Creutzfeldt-Jakob disease (CJD) to understand how the disease develops before any symptoms. It may involve genetic testing and safety-required procedures like brain scans and a spinal fluid test to learn about early changes.
Tel AvivAges 50 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 - NCT04334031Recruiting
Hospital follow-up study for immune-related disease
This is a study that follows people with an immune-related illness at Lille University Hospital to better understand their care needs over time. By collecting information regularly, the study may help improve how future patients are monitored and treated.
LilleAges 18 years+
Hear when a new Genetic Disease trial opens
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Common questions
- Are there clinical trials for genetic disease?
- Yes. Clin2 currently lists 224 recruiting genetic disease 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 disease 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 disease 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.