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
- NCT01440218Enrolling by invitation
Study for rare illnesses and treatment reactions in families
This trial looks for answers in rare illnesses that either have no known cause or have not improved with usual treatments. It also studies rare harmful reactions that happen after medicines, vaccines, or medical devices, and may involve family members of the affected person.
La Jolla, CaliforniaAges Any age - 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 - 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+ - NCT06782230Recruiting
A biobank for rare disease samples and data
This study creates a collection of biological samples and health information from people with rare diseases and their family members. It aims to build a shared resource that can help future research on rare conditions.
San Donato Milanese, MilanAges Any age - NCT06938542Enrolling by invitation
Palliative care needs for kids with rare diseases
This study asks children with rare diseases and their families about what kind of palliative care (comfort and support) they need. It aims to understand how to better help families through their child's illness.
Washington D.C., District of ColumbiaAges 1–99 - NCT03854318Recruiting
Study of families with suspected RUNX1 gene changes
This study follows people who have a known or suspected RUNX1 gene variant linked to FPDMM-like features. It may help improve understanding of the gene, and participants may contribute samples that researchers use for genetic testing and research.
Bethesda, MarylandAges 1 day–100 years - NCT04654000Recruiting
Rheopheresis to treat painful skin damage in calciphylaxis
This trial studies whether a treatment called rheopheresis, added to standard care, can help people with calciphylaxis whose skin wounds are getting worse. It may be considered when ulcers or dead (necrotic) skin appear despite conventional treatment.
AngersAges 18 years+ - 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+ - NCT07622069Recruiting
Understanding Rare Autoinflammatory Diseases and Their Causes
This study helps doctors better understand rare autoinflammatory diseases—conditions where the immune system mistakenly attacks the body—by collecting information from patients being treated at a major French hospital. Your participation could help improve how these diseases are diagnosed and managed.
LyonAges 4 years+ - NCT06435195Recruiting
Study of rare pituitary and sellar region diseases
This study is collecting information from people with rare diseases of the pituitary gland or nearby areas. It aims to better understand these conditions and improve care.
Beijing, Beijing MunicipalityAges Any age - 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 - NCT05913843Recruiting
Study how ancestry may affect facial features in rare genetic conditions
This study looks at how a person’s ancestry might influence the facial appearance seen in rare inherited (genetic) diseases. You may be considered if you have unusual physical signs and doctors suspect a genetic cause.
TaipeiAges 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 - NCT02504879Recruiting
Study of melorheostosis progression and genetic causes
This study follows adults with suspected or confirmed melorheostosis to understand how the condition develops and what outcomes to expect. It may help researchers better understand the disease and its genetic factors.
Bethesda, MarylandAges 18–90 - NCT06070467Recruiting
Understanding daily life of children with rare eye disease
This study looks at how children with rare eye diseases experience their daily lives. It aims to understand their real-life challenges and feelings through interviews and questionnaires.
StrasbourgAges 8 years+ - 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 - 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 - NCT07314736Recruiting
Study on values and ethics for ultra-rare diseases
This study aims to understand the perspectives of parents, caregivers, family members, and professionals involved with children who have ultra-rare genetic disorders. It uses interviews or focus groups to explore ethical and value-based questions.
Memphis, TennesseeAges Any age - NCT05810181Recruiting
Interviews to improve choices about gene therapy for rare diseases
This study uses one-on-one interviews to learn what families and clinicians need to make decisions about gene therapy for rare diseases. The goal is to create or improve decision tools that make gene therapy information easier to understand and act on.
Memphis, TennesseeAges 8 years+ - NCT06856902Recruiting
A study on a behavioral program to improve healthcare
This study tests a behavioral program to help people stick with their healthcare plan. It aims to improve health and lower costs.
DüsseldorfAges Any age - NCT04698421Recruiting
Blood and tissue sample collection for rare autoimmune nerve diseases
This study collects biological samples (like blood or other specimens) from people with rare neurological conditions that may involve the immune system. Your samples may help researchers better understand these diseases.
ToulouseAges 6–99 - NCT06324136Recruiting
Personalized diagnosis for rare kidney diseases
This trial uses genetic testing to find the cause of rare kidney diseases. It is for people with unexplained kidney problems, a family history of kidney disease, or certain findings on ultrasound. The goal is to provide a more personalized diagnosis and see if this approach is cost-effective.
FlorenceAges birth–70 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 - NCT05773651Recruiting
Study for rare solid tumors in children and teens
This study collects information from children and teens with rare solid tumors to better understand these cancers and support future research. You (or your guardian) can join by giving consent, but it’s mainly for people not already registered in certain ongoing pediatric cancer study databases in Germany.
TübingenAges 1 day–18 years
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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.