Clinical trialCLINICALTRIALSMar 26
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.
Clinical trialCLINICALTRIALSMar 26
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.
Clinical trialCLINICALTRIALSMar 26
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.
Clinical trialCLINICALTRIALSMar 26
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.
Clinical trialCLINICALTRIALSMar 26
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.
ResearchCLINICALTRIALSMar 26
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.
ResearchCLINICALTRIALSMar 26
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.
ResearchCLINICALTRIALSMar 26
Boston Children's Hospital is looking for 10,000 families with rare genetic diseases that haven't been diagnosed or fully understood yet. Researchers will study the genes and proteins in these families to figure out what's causing their conditions. The goal is to help doctors diagnose and treat rare diseases better in the future.
WHY IT MATTERSIf your family has been searching for answers about a rare or undiagnosed genetic condition, this study could help identify what's causing it and contribute to better treatments for others with the same disease.
Clinical trialCLINICALTRIALSMar 26
Researchers are testing a drug called cabozantinib-s-malate to treat children and young adults with rare cancers, including sarcomas (muscle cancers), Wilms tumor (kidney cancer), and other solid tumors that have come back after treatment or didn't respond to initial therapy. The drug works by blocking proteins that help tumors grow and form new blood vessels. This phase II trial has enrolled 109 patients and is no longer recruiting new participants.
WHY IT MATTERSIf your child has a recurrent or treatment-resistant sarcoma, Wilms tumor, or other rare pediatric solid tumor, this completed trial data may help inform whether cabozantinib could be an option to discuss with their oncologist.
Clinical trialCLINICALTRIALSMar 26
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.