Clinical trials
Rare Diseases clinical trials
Below are recruiting rare diseases clinical trials, each written for real people, not researchers. We’re tracking 104 recruiting studies, each written for real people, not researchers, below.
Recruiting studies
- NCT04703179Enrolling by invitation
Rare disease and undiagnosed case research blood and tissue biobank
This study collects and stores samples and related medical information for people with rare diseases or suspected genetic conditions. It may help researchers better understand these conditions and develop future testing and treatments.
Scottsdale, ArizonaAges Any age - NCT06729554Recruiting
Education and support program for rare disease kids
This study tests a targeted educational and support program for children and teens with rare diseases. It helps families learn more about the condition and cope better with day-to-day challenges.
Graz, AustriaAges 5–20 - NCT02397824Recruiting
Teeth photo study for people with rare diseases
This study looks at how rare diseases can show up in the mouth and teeth, using pictures of your teeth. It may help doctors recognize dental signs earlier and better describe these rare conditions.
Strasbourg, AlsaceAges Any age - NCT03287193Recruiting
Study genes behind rare, genetic-looking illnesses
This study is trying to find the gene or body-process cause of rare diseases (or rare forms of common diseases) when the reason is not yet understood. If you qualify, you may be asked to give genetic and health information that could help doctors diagnose and understand the condition better.
DijonAges Any age - NCT05236595Enrolling by invitation
Personalized study for rare genetic diseases using genetic “target” drugs
This study looks for rare genetic conditions where a personalized genetic medicine (an antisense drug) could potentially work. If the team finds a “targetable” DNA or RNA change in your family, you may be followed to see how the best therapy could be planned.
Scottsdale, ArizonaAges Any age - NCT04024774Recruiting
Genetic testing study for rare diseases with an unclear cause
This study looks for a genetic (DNA) explanation for rare diseases when usual genetic testing hasn’t found an answer. It may help by re-analyzing prior results and comparing them with parents’ DNA to better pinpoint the cause.
DijonAges Any age - NCT04880356Recruiting
Study of very rare inherited brain diseases over time
This study follows adults over time who have a very rare inherited brain disease, or whose illness seems like it may run in families. The goal is to better understand these conditions and how they progress.
Milan, MilanoAges 18 years+ - NCT05499091Recruiting
Study rare disease genetics using family and health data
This study tries to find genetic causes for rare diseases that are not yet understood. It uses a national rare-disease data bank and collects consent from patients and sometimes close family members.
AngersAges Any age - NCT06343558Recruiting
Gait and balance study for rare neurological diseases
This study looks at how people with rare or common neurological diseases walk and keep their balance. You will be asked to do simple walking and standing tasks to help doctors understand these problems better.
Milan, MilanAges 18–80 - NCT06573723Recruiting
Rare disease registry at Hospital Italiano
This study collects information from patients with certain rare diseases to better understand them. If you have one of these conditions and receive care at Hospital Italiano de Buenos Aires, you may be able to join.
Buenos Aires, Buenos AiresAges Any age - NCT06926127Recruiting
Genomic study for rare and genetic diseases
This study aims to use advanced genetic testing to better understand rare and genetic diseases. It may help find a diagnosis or guide personalized care for you or your child.
Rome, LazioAges 1 minute–90 years - 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 - NCT07075107Recruiting
Using cell and blood tests to find causes of rare developmental disorders
This study is looking for people with rare, unexplained conditions that cause early intellectual disability and low muscle tone. Researchers want to study your cells and blood to try to find new genetic causes that standard DNA tests missed.
Marseille, Provence-Alpes-Côt-d'AzueAges birth–99 years - NCT05179863Recruiting
Swiss rare disease registry for patients and caregivers
This study builds a “registry,” which is a secure list of people with rare diseases or suspected rare diseases in Switzerland. It helps researchers better understand these conditions over time and improve care.
AarauAges Any age - NCT03362164Recruiting
Studying heart involvement in people with Fabry disease
This study looks at how the heart is affected in adults with Fabry disease. It may help doctors better understand heart-related changes in order to guide care.
Würzburg, BavariaAges 18 years+ - NCT04586075Recruiting
Get help finding the cause of an undiagnosed genetic condition
This study evaluates people whose medical cause is still unclear even after genetic tests and other workups. It uses coded health data and lab samples to look for a new or rare genetic cause, and it may return additional (“secondary”) genetic findings.
Madison, WisconsinAges Up to 100 years - NCT06833489Recruiting
Using genetic testing to find answers for rare muscle diseases
This study looks at leftover muscle tissue from people who have had genetic testing for rare muscle diseases but didn't get a clear diagnosis. The goal is to use newer genetic analysis to find the cause of their disease.
MarseilleAges Any age - NCT07063719Recruiting
Finding cell markers for rare eye diseases in adults
This study looks for biological markers in the blood or eye samples of people with rare eye diseases compared to healthy volunteers. It aims to better understand and diagnose these conditions.
ParisAges 18 years+ - NCT06539169Recruiting
Following people with rare diseases over time
This study follows people with rare diseases over time to learn more about how these conditions progress and how they are treated. Joining may help researchers understand your disease better and find better ways to care for others.
Los Altos, CaliforniaAges Any age - NCT07039084Recruiting
Tablet for helping children with rare genetic conditions communicate
This study tests whether a speech-generating tablet (like an iPad with a communication app) can help children with rare genetic conditions who are minimally verbal (using fewer than 50 words) to communicate better. If your child fits the criteria, they could get a device and training to see if it helps them express themselves more easily.
Melbourne, VictoriaAges 3–12 - NCT04731857Recruiting
Genetic testing results study for rare diseases
This study looks at how well different genetic tests (whole exome/genome sequencing and standard genetic tests) work for diagnosing rare genetic diseases and inherited cancer conditions. It may help confirm which testing approach provides the clearest results for families.
TübingenAges Any age - NCT06360913Recruiting
Blood and urine test for rare metabolic diseases
This study uses a simple blood spot and urine test to look for chemical signs of rare metabolic diseases. It aims to improve early detection and understanding of these conditions across all ages, including healthy individuals.
BrusselsAges 1 day–99 years - NCT07205861Recruiting
Study of patients with immune TTP in France
This study looks back at medical records of people with immune-mediated thrombotic thrombocytopenic purpura (TTP), a rare blood clotting disorder. It aims to better understand the disease and how it is treated.
ParisAges Any age - NCT06475651Recruiting
DNA patterns in rare prenatal diseases
This study looks at DNA patterns in fetuses or children with rare genetic conditions. It aims to better understand how these patterns relate to diseases that start before birth, which could help with diagnosis and future care.
ParisAges birth–18 years
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Rare Diseases trials by city
Studies with a site in or near these metro areas.
Rare Diseases trials by state
Studies with a site anywhere in these states.
Common questions
- Are there clinical trials for rare diseases?
- Yes. Clin2 currently lists 104 recruiting rare diseases 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 diseases 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 diseases 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.