Clinical trialCLINICALTRIALSToday
Researchers are testing a new cancer drug called sutetinib maleate in people with advanced lung cancer that has specific uncommon genetic mutations. This is a Phase 2 trial, meaning the drug has already been tested in a small group and now researchers want to see if it works better and remains safe in a larger group of 66 patients. The study is currently accepting new participants.
WHY IT MATTERSIf you have metastatic or locally advanced non-small cell lung cancer with uncommon EGFR mutations, this trial offers access to a potentially new treatment option that may not yet be available outside of clinical research.
Clinical trialCLINICALTRIALSToday
Researchers are testing a new drug called BH-30643 for advanced lung cancer patients whose tumors have specific genetic mutations (EGFR or HER2). The study will first figure out the right dose and watch for side effects, then test how well the drug works against the cancer. About 266 patients will participate across multiple hospitals.
WHY IT MATTERSThis trial is now actively recruiting patients with EGFR and/or HER2-mutated advanced NSCLC — if you have this genetic profile and have exhausted standard treatments, you may be eligible to access a potentially new treatment option.
Clinical trialCLINICALTRIALS3 days ago
Researchers are looking for patients with advanced lung cancer (stage III) that cannot be removed with surgery and has unusual genetic mutations. The study will test whether giving patients targeted drugs based on their specific genetic mutation, followed by surgery, works better than standard treatment. About 120 patients will participate in this research.
WHY IT MATTERSIf you have unresectable stage III NSCLC with a rare mutation, this trial offers access to personalized treatment tailored to your specific genetic profile before surgery—an approach not yet widely available outside research settings.
Clinical trialCLINICALTRIALS4 days ago
Researchers are looking for adults and children with certain immune system disorders to join a study. The immune system normally helps your body fight infections, but in some people it doesn't work properly, causing frequent infections and other health problems. This study wants to understand why some immune systems fail and how to help people with these conditions. Relatives of affected people may also be able to join.
WHY IT MATTERSThis trial is actively recruiting 500 participants with four specific genetic immune disorders (PI3KCD, CTLA4, STAT3GOF, and MAGT1 deficiency) — if you or a family member has one of these diagnoses, you may be eligible to enroll now and contribute to understanding these rare conditions.
Clinical trialCLINICALTRIALS4 days ago
Williams syndrome is a rare genetic condition that affects about 1 in every 8,000 to 12,000 people. It happens when a person is missing a small section of DNA on chromosome 7, which includes the gene that makes elastin (a protein that helps blood vessels stretch). This causes distinctive facial features and heart and blood vessel problems. Researchers are now recruiting 1,099 people with Williams syndrome or a related heart condition called supravalvular aortic stenosis to donate DNA and tissue samples to help scientists better understand these conditions.
WHY IT MATTERSThis actively recruiting biobank offers Williams syndrome and SVAS patients a direct way to contribute DNA and tissue samples to NHLBI-sponsored research that could accelerate understanding of the genetic causes and lead to new treatments.
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Researchers are testing a new gene therapy called SPK-10001 to treat Huntington's disease, a rare brain disorder that causes movement problems and cognitive decline. This early-stage study will check if the treatment is safe and whether it helps patients. About 53 people with Huntington's disease will participate in this trial, which is being run by Roche, a major pharmaceutical company.
WHY IT MATTERSThis is one of the first human trials of SPK-10001, a gene therapy specifically designed to target the genetic cause of Huntington's disease, offering hope for a disease that currently has no cure.
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Researchers are testing a new gene therapy called BBP-812 to treat Canavan disease, a rare brain disorder that affects children. The therapy uses a modified virus to deliver a healthy copy of a gene that's missing or broken in people with this disease. This early-stage trial will check if the treatment is safe and whether it helps patients.
WHY IT MATTERSThis trial is now actively recruiting children with Canavan disease — if your child has been diagnosed, you may be eligible to participate in one of the first human tests of this gene therapy approach.
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Researchers are testing a new treatment called IFx-Hu2.0 combined with a cancer drug called pembrolizumab for people with Merkel cell carcinoma, a rare and aggressive skin cancer. In this study, some patients will receive the new treatment while others receive a placebo (fake treatment) to see which works better. The trial is looking for 118 adults to participate and is currently accepting new patients.
WHY IT MATTERSThis is the first Phase 2/3 trial testing IFx-Hu2.0 as an add-on therapy for Merkel cell carcinoma, offering checkpoint inhibitor-naïve patients a potential new treatment option beyond standard pembrolizumab alone.
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Researchers are testing a new AI-powered tool called IntelliWell that can find sperm cells in testicular tissue samples that appeared to have no sperm when checked the traditional way. If the tool successfully finds sperm, those cells could be used to help men with infertility have biological children through a procedure called ICSI. The study is enrolling 20 participants at Brigham and Women's Hospital.
WHY IT MATTERSFor men with azoospermia (no sperm in ejaculate) who were told their testicular tissue had no usable sperm, this AI tool could recover sperm that was missed by standard testing, potentially making fertility treatment possible when it seemed impossible before.
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Researchers are looking for 300 patients with Duchenne muscular dystrophy (DMD) to join a study about a medicine called givinostat. The study will track how safe the medicine is and how well it works for patients who are just starting to take it or have been taking it for less than 6 months. Patients will be followed for at least 2 years, with some being tracked for up to 5 years total.
WHY IT MATTERSThis real-world study will show how givinostat actually performs in everyday clinical practice for DMD patients in the US, providing practical safety and effectiveness data beyond what controlled trials reveal.
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Researchers are testing a cancer drug called nivolumab in patients with rare tumors that have a specific marker called PD-L1. This is a Phase 2 trial that will include up to 28 patients with many different types of rare cancers who haven't responded well to standard treatments. The study will last up to 12 months and measure how well the drug works.
WHY IT MATTERSIf you have one of the 43 rare tumor types listed and your cancer has high PD-L1 expression, this trial offers access to an immunotherapy that may work regardless of where your cancer started.
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Researchers are looking for young adults ages 15-25 with rare genetic disabilities to join a study about getting jobs and education. The study will follow 300 participants and examine the challenges these young people face when trying to go to school, get internships, or find work. Many young people with rare genetic diseases struggle with these opportunities because of their condition and lack of support.
WHY IT MATTERSThis trial directly addresses employment and education barriers that young adults with rare genetic disabilities face — areas where they typically have the fewest resources and support.
Clinical trialCLINICALTRIALSApr 14
Researchers at Mayo Clinic are looking for 6,000 people with rare kidney stone diseases caused by a single gene mutation to join a study. The study will identify which specific genes and genetic changes cause these kidney stones. By understanding the genetics behind these stones, scientists hope to develop better treatments in the future.
WHY IT MATTERSIf you have a rare monogenic kidney stone disease, this trial could help identify the genetic cause of your condition and accelerate development of targeted treatments — and you can enroll now.
Clinical trialCLINICALTRIALSApr 14
Researchers are testing a new medicine called pozelimab in young children ages 1 to 5 who have CHAPLE disease, a rare inherited condition that affects the stomach, intestines, heart, and blood vessels. This study is checking whether the medicine is safe and well-tolerated in this young age group. CHAPLE disease can cause serious symptoms, so finding safe treatments for young children is important.
WHY IT MATTERSThis is the first safety trial of pozelimab in very young children (ages 1-5) with CHAPLE disease, offering families of affected toddlers a potential treatment option when few alternatives exist for this life-threatening condition.
Clinical trialCLINICALTRIALSApr 14
Researchers are recruiting 7,000 cancer patients to test a new way of detecting cancer that comes back after treatment. By analyzing blood, tissue, and other body fluids for traces of cancer DNA, doctors hope to catch cancer earlier and help patients stay cancer-free longer. This study includes many types of cancer and will help doctors decide on the best treatment plans.
WHY IT MATTERSThis trial is now actively recruiting patients with various cancer types at a major Canadian cancer center, offering access to cutting-edge molecular residual disease testing that could detect cancer recurrence months before traditional imaging scans.
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Researchers at Columbia University are looking for 106 children and young adults with Duchenne Muscular Dystrophy (DMD) and Spinal Muscular Atrophy Type 3 (SMA Type 3) to join a study. The study will use special sensors and technology to track how people walk and move in their daily lives over a long period of time. The goal is to find new ways to measure how these diseases are progressing so doctors can better understand and treat them.
WHY IT MATTERSThis trial is now actively recruiting participants with DMD and SMA Type 3, offering a chance to contribute to developing better measurement tools that could help doctors track disease progression and evaluate future treatments more accurately.
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Researchers are testing a new drug called zipalertinib to see if it helps people with early-stage lung cancer that has specific genetic mutations. Patients who had surgery to remove their tumors will receive either the new drug or a placebo (fake medicine) along with standard chemotherapy. The study wants to find out if zipalertinib can prevent the cancer from coming back better than chemotherapy alone.
WHY IT MATTERSIf you have early-stage NSCLC with uncommon EGFR mutations (like exon 20 insertions) and recently had surgery, this trial offers access to a targeted therapy specifically designed for your mutation type before it becomes widely available.
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Researchers are looking for 100 people with rare types of joint inflammation to better understand how these conditions develop and damage joints. Some of these inflammatory arthritides occur alongside rare autoimmune diseases like systemic sclerosis, while others develop as side effects from cancer immunotherapy drugs. By studying tissue samples and immune cells from patients, scientists hope to discover why these conditions happen and potentially develop better treatments.
WHY IT MATTERSIf you have rare inflammatory arthritis, systemic sclerosis with joint involvement, or developed joint inflammation after cancer immunotherapy, this trial could help researchers understand your condition better and may lead to more targeted treatments in the future.
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Researchers are testing a new technology called SmartMatch that helps doctors find the best cancer medicines for patients with rare brain and spinal cord tumors. The technology works by taking a small piece of tumor removed during surgery and testing it against different drugs to see which ones work best. The study wants to see if SmartMatch can complete this analysis and give doctors a report within 3 weeks of surgery. This trial is looking for 80 patients with various types of brain tumors.
WHY IT MATTERSThis trial offers patients with recurrent or advanced brain tumors access to personalized drug testing that could identify the most effective treatment for their specific tumor type within weeks of surgery.
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Researchers are testing a combination of two cancer drugs called dabrafenib and trametinib in patients with rare tumors that have a specific genetic change called BRAF V600E. This is a phase IV study, which means the drugs have already been approved and doctors are gathering more information about how well they work. The study will include children (age 1 and up) and adults, and is currently looking for 40 patients to participate.
WHY IT MATTERSIf you have a rare solid tumor with a BRAF V600E mutation and your doctor has already recommended dabrafenib plus trametinib treatment, this trial offers an opportunity to participate in research that could help future patients while receiving the same treatment your doctor planned for you anyway.