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
- 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 - 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+ - NCT04760522Recruiting
Genetic testing plan for patients with unclear disease cause
This study helps decide treatment planning based on genetic testing for people whose disease cause is unclear but may be genetic. It’s meant to support a “genomic health” approach, where results guide next steps in care.
TübingenAges Any age - 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 - NCT04046796Recruiting
Study genetics in identical twin who differ in symptoms
This study looks at DNA changes to explain why two identical (monozygotic) twins can have different symptoms. It may help clarify the cause of an unclear condition in one twin so the right diagnosis (and future treatment) can be found.
TübingenAges 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 - 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 - 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 - NCT06435468Recruiting
Biocollection for rare childhood-onset immune diseases
This study collects blood and tissue samples from patients with rare immune system diseases that started in childhood, and from their relatives and healthy volunteers. The goal is to build a biocollection for future research to better understand these diseases.
Bron, BronAges 1 year+ - 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 - NCT06775561Recruiting
Study of hidden DNA causes for rare neuromuscular and epilepsy diseases
This study is for people with a neuromuscular disease or epilepsy whose genetic testing hasn't found a clear answer. It uses advanced techniques to look at parts of the DNA that don't code for proteins, to find hidden causes and help guide future treatments.
BolognaAges Any age - 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 - 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 - 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 - 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 - 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 - NCT07527624Recruiting
Study of work and social inclusion for young adults with rare genetic conditions
This study looks at how young adults aged 15–25 with rare genetic conditions (like certain bone, skin, hearing, or facial conditions) are doing in school, work, and social life. Researchers want to understand what helps or prevents young people with these conditions from being included in their communities.
Paris, Île-de-France RegionAges 15–25 - NCT06786754Enrolling by invitation
Skin cell study for Marfan syndrome and aortic aneurysms
This study looks at skin cells (fibroblasts) from people with Marfan syndrome or other genetic conditions that cause thoracic aortic aneurysms. The goal is to understand how these cells behave, which may help improve future treatments.
San Donato Milanese, MilanAges 18 years+ - NCT06072079Enrolling by invitation
Structural chromosome changes and brain disorders
This trial is for people who have or might have a rare disease or a change in their chromosomes. The study aims to learn more about how these changes relate to brain disorders.
StockholmAges 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+ - 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+ - NCT06595940Recruiting
Genetic study of unusual disease in non-US populations
This study looks for genetic causes of rare or unusual disease patterns in people living outside the United States. If you or a family member has a condition that seems to run in the family, started very early, or has an unusual form, you may be asked to provide a DNA sample and medical history.
MokaAges 2–100
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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.