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
- NCT06821386Recruiting
Genetic testing for seriously ill infants in intensive care
This study offers genetic testing for infants under 18 months who are in intensive care with certain health problems that may be genetic. The goal is to find a genetic cause quickly, which could guide care and treatment.
TaipeiAges Up to 1.5 years - NCT03568630Recruiting
Blood tests to study early pancreatic cancer risk
This study looks at blood “markers” to find early signs or higher risk for pancreatic cancer. You may join if you have certain risk factors (like new diabetes, pancreatic cysts/pancreatitis, or a strong family history) and can come to Omaha for blood draws twice a year.
Omaha, NebraskaAges 19 years+ - NCT05597904Recruiting
Study differences in celiac disease and related skin rash
This study looks at why celiac disease (and a related skin condition called dermatitis herpetiformis) can look different from person to person. It may help researchers understand these “phenotypes” (different patterns) so future care can be better targeted.
TampereAges 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.
Birmingham, AlabamaAges 18 years+ - 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.
Birmingham, AlabamaAges 18 years+ - NCT03131427Recruiting
Registry for inherited liver and metabolism-related conditions
This is a study that collects health information and samples (if applicable) from people with certain genetic or metabolic liver diseases. It may help doctors better understand these conditions and improve future care.
Beijing, Beijing MunicipalityAges Any age - NCT05747976Recruiting
Study for children with very high body size measurements
This study is building a program database for children who have unusually high body size measurements for their age. By collecting genetic and health information, researchers hope to better understand causes of obesity and guide care.
Houston, TexasAges Any age - NCT06767605Recruiting
Spanish registry for autoimmune liver diseases
This study collects information from people with autoimmune or cholestatic liver diseases to better understand them and improve care. It does not test a new treatment, but your participation can help future research.
BarcelonaAges 18 years+ - NCT01193647Enrolling by invitation
Study genetics that may raise rotator cuff injury risk
This study looks at genetic (inherited) factors that may make some people more likely to develop rotator cuff tears. You may be able to join if you’ve had a shoulder MRI for pain or you’re a close family member of someone with a documented tear.
Salt Lake City, UtahAges 18 years+ - NCT06796751Recruiting
Better DNA testing for unclear genetic results
This study uses a new, advanced DNA sequencing method (long-read sequencing) to try to clarify unclear or incomplete genetic test results. If you or a family member have had genetic testing that left unanswered questions, this trial may help find more definite answers.
Bologna, BolognaAges 4 weeks+ - NCT06948110Recruiting
Searching for genes linked to autoimmune diseases
This study looks for genes that may be linked to autoimmune diseases by comparing the DNA of people with these conditions to healthy family members or volunteers. If you have an autoimmune disease or are a healthy person interested in helping research, this study may help scientists understand why these diseases run in families.
Bethesda, MarylandAges 18–115 - NCT00246857Recruiting
Screening study for inherited immune system conditions
This study screens people who may have an inherited immune system condition (like problems with immune cell growth or death) and their blood relatives. The goal is to understand the condition better by collecting blood samples for testing.
Bethesda, MarylandAges 1 month–100 years - NCT06368726Enrolling by invitationPhase 1
Brain stimulation for kids with autism and genetic changes
This trial tests a gentle brain stimulation treatment called tDCS for children with autism or related conditions who also have certain genetic changes. It may help improve symptoms if your child meets the specific health and birth history requirements.
Albuquerque, New MexicoAges 6–11 - NCT03301038RecruitingPhase 2
Rifampin for a rare calcium disorder caused by CYP24A1
This trial tests rifampin to improve high blood and/or urine calcium that happens in people with CYP24A1 gene changes. It also checks safety by watching liver and kidney blood tests and pregnancy status.
Philadelphia, PennsylvaniaAges 6 months–65 years - NCT04682470Recruiting
Research study following young adults with cancer
This is an observational study that follows young adults with a confirmed cancer diagnosis to learn more about their experience and care. It does not test a new drug, but your information may help improve future cancer treatment and support.
Amsterdam, North HollandAges 18–39 - 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 - NCT05898009Recruiting
Study BRCA2 gene changes in breast cancer in Reunion
This study looks at how often certain BRCA2 gene changes occur in people in Réunion who have breast cancer. Your participation may help doctors understand breast cancer risk in the local community and guide future care.
Saint-PierreAges 18 years+ - NCT06237790Recruiting
Comparing speech understanding: gene therapy vs. cochlear implant
This study compares how well people with severe hearing loss from birth understand speech after either gene therapy (which fixes a faulty gene) or a cochlear implant (a device that helps you hear). It includes healthy people with normal hearing as a comparison group, and it aims to see which treatment works better for understanding spoken language.
Beijing, Beijing MunicipalityAges 6 months+ - NCT06372587Recruiting
Next-generation Alzheimer's treatment study
This study tests a new treatment for people with probable Alzheimer's disease. It aims to see if the treatment is safe and effective for patients between 18 and 80 years old.
RomaAges 18–80 - NCT06490627RecruitingPhase 2
thalidomide for transfusion-dependent beta thalassemia
This trial tests different doses of thalidomide to see if it can reduce or eliminate the need for blood transfusions in people with beta thalassemia major or intermedia.
Karachi, SindhAges 8–35 - NCT06555965Recruiting
STXBP1 and SYNGAP1 natural history study
This study follows people with STXBP1 or SYNGAP1 gene changes over time to learn more about how these conditions affect the body and mind. It does not test a treatment but helps researchers understand the natural course of the disorder.
Palo Alto, CaliforniaAges Any age - NCT06725901Recruiting
Platform to support genetic diagnosis in children
This trial is building a platform to help doctors diagnose rare genetic diseases in children. It asks neuropediatricians at a specific hospital to share their experience and help improve the process of referring kids to genetic specialists.
Valparaíso, ValparaisoAges Any age - NCT06826014Recruiting
Cancer prevention registry and biorepository study
This study creates a registry of people who have had certain cancer screenings or have conditions linked to cancer risk. Participants donate blood, urine, and cheek swab samples and allow their health records to be followed for five years to help future cancer research.
Bryan, TexasAges 18 years+ - NCT06935253Recruiting
AI to Improve Cardiology Care
This trial tests whether large language models (a type of AI that understands human language) can help cardiologists give better care. If you are a qualified cardiologist who currently treats patients, you may be eligible.
Palo Alto, CaliforniaAges 18 years+
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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.