Clinical trials
Rare Diseases clinical trials
Below are recruiting rare diseases clinical trials, each written for real people, not researchers. We’re tracking 103 recruiting studies, each written for real people, not researchers, below.
Recruiting studies
- NCT06285539RecruitingPhase 2
Testing a drug for rare inflammatory diseases
This trial is testing a new drug (a JAK inhibitor) for people with rare inflammatory diseases like Behçet's, myositis, or IgG4-related disease that hasn't improved with standard treatments. The goal is to see if it can help control symptoms and reduce inflammation.
AmsterdamAges 18–65 - NCT06795152Recruiting
Rare GSD Natural History Study
This study follows people with rare types of glycogen storage disease (GSD) over time to learn more about how the disease progresses. It does not test a new treatment but will collect information to help future research.
Durham, North CarolinaAges birth–90 years - 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 - 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+ - NCT06065852Recruiting
National registry for rare kidney diseases
This study creates a registry to collect health information from people with rare kidney diseases. It aims to improve understanding and future treatments by tracking patient experiences.
Bristol, South WestAges 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 - 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 - NCT04931160Recruiting
Study for suspected Sjögren’s disease diagnosis
This study follows people who may have Sjögren’s disease to better understand how to diagnose it. If you have symptoms like dry eyes or dry mouth, this could help researchers confirm the diagnosis and learn what tests best explain it.
BrestAges 18 years+ - NCT05247645Recruiting
Collecting data from people with rare bone diseases
This study gathers information about people with rare illnesses that mainly affect the bones. It may help researchers better understand these conditions and improve future care.
Bologna, Emilia-RomagnaAges Any age - NCT06289348Recruiting
How is PKU announced to families after newborn screening?
This study talks to parents or doctors about how they first learned their child had PKU through newborn screening. It aims to improve how these rare metabolic diseases are communicated to families.
ParisAges 18 years+ - NCT02141308Recruiting
OCT eye imaging for rare retinal and choroid diseases
This trial studies rare diseases affecting the retina or choroid using detailed eye scans (OCT). It may help doctors better understand how these conditions look in the eye and how imaging findings relate to vision.
Portland, OregonAges 7–100 - NCT04194619Recruiting
Study of pregnancy safety in women with rare blood-vessel diseases
This study looks at pregnancy and the early period after birth in women with rare diseases that affect blood vessels. It may help doctors understand risks and improve care for future pregnancies.
AngersAges 18–45 - NCT06708468Recruiting
Personalized training for rare neuromuscular disorders
This study tests a personalized exercise program for people with rare neuromuscular diseases like FSHD, DM1, or CMT to see if it improves their physical function and quality of life.
BergenAges 18–70 - NCT05903261Recruiting
Study of targeted radiation for rare cancers with limited spread
This observational study follows people with rare solid tumors and a limited number of metastases treated with a focused radiation technique (SBRT). Doctors want to see outcomes after using a strong, curative-intent radiation dose to all active spots.
Rozzano, MilanAges 18 years+ - 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 - NCT03305835Recruiting
Genetic testing for inherited kidney stone causes
This study uses genetic testing to look for inherited (“monogenic”) reasons some people get kidney stones. It may help explain the cause of stones and calcium-related problems, which can guide future care for you or your family.
Rochester, MinnesotaAges Any age - NCT07302074Recruiting
Comparing Rare vs. Common Inflammatory Arthritis
This study compares rare inflammatory arthritis (from rare autoimmune diseases or drugs) to more common types (like rheumatoid arthritis). Researchers will look at tissue samples to understand the differences and help improve diagnosis and treatment.
BordeauxAges 18 years+ - NCT06684327RecruitingPhase 2
Study of three chemotherapy drugs for rare advanced cancers
This trial tests a combination of three chemotherapy drugs (albumin-paclitaxel, ifosfamide, and cisplatin) for people with certain rare cancers that have spread to other parts of the body (stage IV). It looks at how well the treatment works and if it is safe.
Shanghai, Shanghai MunicipalityAges 18 years+ - NCT02285582Recruiting
Rare blood disorder registry for histiocytic conditions
This study is a registry that collects information about people diagnosed with rare histiocytic disorders. It helps doctors better understand these conditions over time and may improve future care.
Birmingham, AlabamaAges Any age - NCT06213402Recruiting
European registry for rare anemia disorders
This study is creating a European registry (database) to collect information about people with rare anemia disorders. By joining, you help researchers better understand these conditions and improve care for yourself and others.
Barcelona, CataloniaAges birth–100 years - 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 - 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+ - 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 - NCT02780297Recruiting
Study of rare stone-causing kidney conditions
This study is for people with certain rare kidney conditions that can cause kidney stones. It aims to learn how these conditions behave over time and may help improve future care.
Birmingham, AlabamaAges Any age
Hear when a new Rare Diseases trial opens
We’ll email you when one opens — at most once a week, no account needed, unsubscribe anytime.
Common questions
- Are there clinical trials for rare diseases?
- Yes. Clin2 currently lists 103 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.