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Researchers at the National Heart, Lung, and Blood Institute are collecting blood and tissue samples from up to 10,000 people to study rare genetic diseases. They want to understand what causes these diseases by examining the samples in a lab. People of any age with undiagnosed or heart and lung diseases can participate. Samples can be collected at the NIH Clinical Center or through your own doctor.
WHY IT MATTERSThis biorepository is actively recruiting and could help researchers identify the genetic causes of your undiagnosed condition, potentially leading to better treatments and diagnosis methods for rare diseases.
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Researchers are looking for genetic causes of rare and unusual diseases in people living outside the United States who haven't had access to genetic testing. They're using new, powerful tools to study the DNA of about 400 people to find out what's causing their diseases. This study could help doctors understand and diagnose rare conditions that are hard to figure out.
WHY IT MATTERSThis trial focuses on underserved populations outside the US with limited access to genetic testing, potentially identifying new disease-causing genes that could lead to diagnoses for patients who have remained undiagnosed despite extensive medical evaluation.
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Researchers are testing two cancer-fighting drugs called nivolumab and ipilimumab together to treat patients with rare types of cancer. These drugs help the body's immune system recognize and fight cancer cells. The trial is currently active but not accepting new patients at this time.
WHY IT MATTERSThis trial tests a combination immunotherapy approach across 50+ rare tumor types, offering potential treatment options for patients with uncommon cancers that have limited standard therapies available.
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Researchers are testing whether combining three cancer drugs—nivolumab, ipilimumab, and cabozantinib—can help treat rare cancers of the bladder, kidney, prostate, and other urinary system organs. This phase 2 trial is actively recruiting 314 patients to see if this drug combination works better than current treatments. The study is being run by the National Cancer Institute.
WHY IT MATTERSThis trial offers patients with rare genitourinary cancers (like collecting duct carcinoma, kidney medullary carcinoma, and rare bladder variants) access to a novel three-drug combination that may be more effective than standard treatments currently available.
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Researchers are looking for patients with a specific type of lung cancer (non-small-cell lung cancer with EGFR PACC mutations) who have never received treatment for advanced disease. This study will test whether a new drug called firmonertinib works better and is safer than two existing drugs (osimertinib or afatinib) that doctors currently use. About 480 patients will be enrolled worldwide.
WHY IT MATTERSThis trial is actively recruiting patients with EGFR PACC mutations—a rare subset of lung cancer—and offers access to firmonertinib, a potentially more effective treatment option compared to standard first-line therapies.
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Researchers are testing a combination of two cancer-fighting treatments called talimogene laherparepvec and nivolumab in patients with rare lymphomas (blood cancers) and skin cancers that didn't respond to previous treatments. Talimogene laherparepvec is a modified virus that helps the immune system fight cancer cells, while nivolumab is an immunotherapy drug that removes the brakes on the immune system. This study involves 68 patients and is currently enrolling participants.
WHY IT MATTERSThis trial offers a potential new treatment option for patients with refractory (treatment-resistant) rare lymphomas like mycosis fungoides and Merkel cell carcinoma, which have very limited options after standard therapies fail.
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Researchers completed a study with 157 Amish and Mennonite participants to find the genes that cause inherited diseases common in these communities. They also created a family tree database using birth and marriage records to help understand how these genetic diseases run in families and what health problems develop over time.
WHY IT MATTERSThis completed research provides a genetic foundation for understanding rare inherited disorders in Amish and Mennonite populations, which could lead to earlier diagnosis and better treatment options for affected families in these communities.
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Researchers are looking for people with melorheostosis, a rare disease where bones become abnormally thick and hard, to join a study. The study will follow participants over time to understand how the disease develops and what causes it. Doctors will do physical exams and collect medical information from people with the disease and their unaffected family members.
WHY IT MATTERSThis is an active recruiting trial sponsored by the National Institutes of Health that could help researchers understand melorheostosis progression and identify disease mechanisms, potentially leading to future treatments for this condition with limited research.
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Researchers at the National Institutes of Health are looking for up to 4,000 patients with rare metabolic disorders to study and treat. These are conditions where the body cannot properly break down certain substances because of missing or faulty proteins. Patients will receive exams and treatment, mostly as outpatients, though some may need to stay at the NIH Clinical Center for special tests.
WHY IT MATTERSThis trial offers patients with arterial calcification due to CD73 deficiency direct access to specialized NIH researchers and potential treatment options that may not be available elsewhere.
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Researchers are looking for 60 people with hereditary multiple osteochondromas (a condition where benign bone tumors grow in multiple places on the body) to join a study. The study will measure how these tumors affect body shape, movement, and function in both children and adults. The goal is to better understand the disease and help doctors decide when surgery is needed.
WHY IT MATTERSThis trial is actively recruiting patients with hereditary multiple osteochondromas and could help establish better guidelines for when surgical treatment should happen, potentially improving outcomes for both pediatric and adult patients.
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Researchers completed a study following 137 patients with Chronic Granulomatous Disease (CGD), a rare immune system disorder. The study compared patients who received a bone marrow transplant (a procedure to replace damaged blood-forming cells) to patients who received standard medical care instead. This research helps doctors understand which treatment approach works best for CGD patients.
WHY IT MATTERSThis completed analysis provides real-world evidence comparing bone marrow transplant outcomes to standard care for CGD patients, which can help your doctor recommend the most effective treatment strategy for your specific situation.
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Researchers are testing a new drug called S-606001 to see if it can help adults with late-onset Pompe disease when added to their current enzyme replacement therapy (ERT) treatment. Pompe disease is a rare genetic condition where the body can't break down a type of sugar, causing muscle weakness over time. This study will check if the new drug is safe and if it helps patients feel better or move more easily. The trial is currently looking for 45 adult participants to join.
WHY IT MATTERSThis trial is actively recruiting adults with late-onset Pompe disease who are already on enzyme replacement therapy — eligible participants may be able to access an investigational add-on treatment that could potentially improve their muscle function.
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Researchers across 7 European countries are working together to develop better ways to diagnose two rare kidney diseases: atypical hemolytic-uremic syndrome (aHUS) and C3 glomerulonephritis (C3G). This study is enrolling 180 people, including patients with these conditions and healthy volunteers, to test new diagnostic tools that could help doctors identify these diseases more quickly and accurately.
WHY IT MATTERSThis trial is developing improved diagnostic tests for aHUS and C3G, which could help patients get diagnosed faster and start treatment sooner—critical since these complement-mediated kidney diseases can cause permanent kidney damage if left untreated.
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Researchers at the National Heart, Lung, and Blood Institute are looking for 5,000 people who have or might have diseases that affect their heart, blood vessels, or metabolism. Participants will have blood tests and heart function tests tailored to their specific condition. Both people with these conditions and healthy people can join to help scientists understand why some people develop heart disease.
WHY IT MATTERSThis large-scale study is actively recruiting and may help identify new risk factors for heart disease in people with rare metabolic, inflammatory, and genetic conditions like Li-Fraumeni Syndrome and cardiomyopathy.
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Researchers at the National Cancer Institute completed a study of 326 people with rare brain and spine tumors, including meningioma, ependymoma, medulloblastoma, and other types. The study collected health information and genetic data to understand what causes these tumors to develop and what factors increase the risk of getting them. These tumors are very uncommon, affecting fewer than 2,000 people per year in the United States.
WHY IT MATTERSThis completed study provides researchers with genetic and health data from 326 patients that could lead to better understanding of why these rare brain tumors develop, potentially informing future treatment options and risk screening for patients with these conditions.
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Researchers are testing a new genetic tool called RNA-Seq to help diagnose rare diseases in children and adults whose current genetic tests came back negative. This tool looks at how genes are turned on and off in cells, which can reveal problems that standard DNA testing misses. The study will first test the tool in healthy people and those with known genetic conditions, then use it to try to diagnose patients with undiagnosed rare diseases.
WHY IT MATTERSIf you have a child or family member with symptoms of a rare kidney or genetic disease but genetic testing hasn't found answers, this trial could offer a new diagnostic pathway that standard tests have missed.
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Researchers at St. Jude Children's Research Hospital are recruiting 385 people—including patients, families, doctors, and scientists—to share their thoughts about ethical questions that come up when testing new treatments for rare brain and nerve diseases. The study wants to understand what different groups of people think is fair and right when designing these small, personalized treatment trials.
WHY IT MATTERSThis study directly shapes how future rare neurological disease trials will be designed and conducted, meaning your input as a patient or caregiver could influence the ethical standards that protect you in future treatment studies.