Clinical trials
Rare Genetic Disease clinical trials
Below are recruiting rare genetic disease clinical trials, each written for real people, not researchers. We’re tracking 59 recruiting studies, each written for real people, not researchers, below.
Recruiting studies
- 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 - NCT04398628Recruiting
Study of non-cancer blood disorders in people with bleeding or clotting
This study follows people with inherited or acquired non-cancer blood disorders to better understand symptoms, causes, and how different treatments work over time. You may be placed into a disorder-specific group, depending on your diagnosis and testing results.
Phoenix, ArizonaAges Any age - NCT06615206Recruiting
First CRISPR RNA therapy for MECP2 duplication syndrome
This trial tests a new CRISPR therapy that edits RNA to treat a rare genetic condition called MECP2 duplication syndrome (MDS). It is for boys aged 2 to 18 who have stable seizures and no other major health problems, with the goal of improving symptoms and safety.
Beijing, Beijing MunicipalityAges 2–18 - NCT02743845Recruiting
Find genetic answers for rare, possibly inherited conditions
This trial looks for gene changes that may explain rare conditions, even when the diagnosis is not fully understood. It may help families who have a rare condition or who are related to someone with one.
Boston, MassachusettsAges Any age - NCT07317193Recruiting
Genetic causes of adult bile duct disease
This study looks for new genes that might cause abnormal liver test results or specific bile duct diseases in adults, when standard testing hasn't found a clear cause. It also uses healthy blood donors as a comparison group.
Milan, MilanoAges 18–65 - NCT03169010Recruiting
Study registry for rare lung artery blood pressure problems
This study collects information from people with rare types of pulmonary hypertension (high blood pressure in the lungs) and from healthy volunteers. It helps researchers better understand these conditions, especially using a special lung-heart test to confirm the diagnosis.
Beijing, Beijing MunicipalityAges Any age - NCT06102070Recruiting
Genetic study of severe infections
This study looks for genetic reasons why some people get very serious infections. If you or a family member has had a rare, severe infection, researchers will analyze your DNA to find genes that might make you more vulnerable.
Paris, Île-de-France RegionAges Any age - NCT07329257Recruiting
Project PENGUIN: Study of rare brain development disorders
This study looks at rare and ultra-rare conditions that affect brain development. It aims to learn more about what causes these conditions. You may join if you or your child have a diagnosed or suspected neurogenetic disorder.
Columbia, MissouriAges Up to 99 years - NCT02026388Recruiting
Kidney stone DNA and tissue sample biobank study
This study collects and stores donated samples (like blood, urine, and tissue) from people with certain rare inherited kidney stone conditions. The goal is to build a resource for future research that could help improve diagnosis and treatment.
Rochester, MinnesotaAges Any age - NCT03610802Recruiting
Send blood samples to study genetic and immune differences
This study collects blood (and sometimes related samples) to learn how genes and the immune system work in people with primary immunodeficiency (PID) or in family members who may not have it. The goal is to improve understanding of rare immune conditions and help guide future care.
Bethesda, MarylandAges 1 day–99 years - NCT05544266Recruiting
Study rare diabetes patterns to better guide diagnosis
This study looks at people who may have a “non-typical” form of diabetes, including rare genetic causes or unusual symptoms. It may help your care team understand what type of diabetes you have and whether specific genetic testing could explain it.
Aurora, ColoradoAges Any age
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Common questions
- Are there clinical trials for rare genetic disease?
- Yes. Clin2 currently lists 59 recruiting rare 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 rare 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 rare 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.