Clinical trials
Undiagnosed Disease clinical trials
Below are recruiting undiagnosed disease clinical trials, each written for real people, not researchers. We’re tracking 12 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 - 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 - 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+ - 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 - NCT02543996Recruiting
Providing blood or tissue samples to study disease
This study collects and stores biological samples (like blood and cord blood) to help researchers understand what causes disease. You may be asked to provide samples during pregnancy, delivery, or from an affected person, depending on eligibility.
Bethesda, MarylandAges 1 month–100 years - NCT02450851Recruiting
Find answers for undiagnosed medical conditions using genetic testing
This study helps look for causes of health problems when no one has been able to give a diagnosis. It tests and shares medical and genetic information (with privacy protections) so researchers can better match findings to possible causes.
Birmingham, AlabamaAges 1 month–100 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 - NCT05007990Recruiting
Interview study of caregiving networks over a person’s life
This study uses interviews and questionnaires to better understand who makes up a caregiver’s support network when caring for someone with a long-term health condition. Your answers may help researchers understand how caregiving changes over time and across different health situations.
Bethesda, MarylandAges 18–100 - NCT02927158Recruiting
Genetic testing study for Amish and Mennonite community members
This study uses genetic testing to learn more about the causes of health conditions in Amish and Mennonite people. It may help researchers understand patterns in this community and improve future care.
Pittsburgh, PennsylvaniaAges Up to 100 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 - 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 - NCT06866483Recruiting
Online screening for undiagnosed myasthenia gravis
This study tests a new online screening tool to find people who might have undiagnosed myasthenia gravis (a muscle-weakness condition). You answer questions about your symptoms and get more information if the tool suggests you might need to talk to a doctor.
Evanston, IllinoisAges 18 years+
Hear when a new Undiagnosed Disease trial opens
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Common questions
- Are there clinical trials for undiagnosed disease?
- Yes. Clin2 currently lists 12 recruiting undiagnosed 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 undiagnosed 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 undiagnosed 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.