ResearchBIORXIVApr 16
Researchers found that a protein called DDR2 is overactive in Alzheimer's disease and may be blocking the brain's natural cleaning system. They developed an antibody (a type of immune protein) that can cross into the brain and reduce DDR2 levels, which in early studies helped restore the brain's ability to clear out harmful waste products and improved Alzheimer's symptoms in animal models.
WHY IT MATTERSThis research identifies a new therapeutic target for Alzheimer's disease that works through a different mechanism than current treatments, potentially offering hope for patients whose disease progresses despite existing amyloid-targeting therapies.
Clinical trialCLINICALTRIALSApr 15
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.
Clinical trialCLINICALTRIALSApr 15
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.
Clinical trialCLINICALTRIALSApr 15
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.
Clinical trialUNITERAREApr 15
Researchers are looking for pregnant women with NMOSD (a rare disease that affects the nerves in the eyes and spinal cord) who have taken or are taking a medicine called UPLIZNA to join a safety study. The study will track what happens to these women and their babies to make sure the medicine is safe during pregnancy. This information will help doctors understand whether UPLIZNA can be used safely by pregnant patients with NMOSD.
WHY IT MATTERSThis trial is recruiting pregnant women with NMOSD who have been exposed to UPLIZNA — currently there is limited safety data on this drug during pregnancy, so this study directly addresses a critical gap for women of childbearing age managing this serious neurological condition.
Clinical trialUNITERAREApr 15
Researchers are testing a new imaging scan called 18F-mFBG that can take pictures of the heart in people with Lewy body dementia, a brain disease that causes movement problems and thinking difficulties. This Phase 2 trial is now accepting patients and aims to see if this special scan can help doctors better understand and diagnose the disease. The scan uses a safe radioactive tracer that shows how well the heart's nerve endings are working.
WHY IT MATTERSThis trial is now actively recruiting patients with Lewy body dementia — if you have this diagnosis, you may be eligible to participate in a study that could help develop better diagnostic tools for your condition.
Clinical trialUNITERAREApr 15
Researchers are looking for patients with a specific type of blood cancer called Philadelphia chromosome positive acute lymphoblastic leukemia to test a new treatment combination. The treatment uses chemotherapy drugs (EPOCH), sometimes combined with rituximab (a protein therapy), plus a targeted drug called ponatinib. This is a Phase 2 trial, meaning it's testing whether the treatment works and is safe in a larger group of patients.
WHY IT MATTERSThis trial is now actively recruiting patients with newly-diagnosed Ph+ ALL/lymphoma and offers access to ponatinib, a third-generation tyrosine kinase inhibitor that may improve outcomes for this aggressive blood cancer.
Clinical trialUNITERAREApr 15
Researchers are testing a new cancer treatment that combines two approaches: a chemotherapy drug called temozolomide and a vaccine called SurVaxM that trains the immune system to fight cancer cells. This trial is for patients with neuroendocrine carcinomas (rare cancers in hormone-producing cells) that are spreading and getting worse despite other treatments. The study is now accepting patients and will run through 2026.
WHY IT MATTERSThis is one of the first trials testing an immunotherapy vaccine specifically for metastatic neuroendocrine carcinomas, offering a potential new option for patients whose cancer has progressed on standard treatments.
Clinical trialCLINICALTRIALSApr 14
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 tested a new gene therapy called ST-920 for Fabry disease in 36 patients. This treatment uses a modified virus to deliver instructions that help the body make an enzyme called alpha-galactosidase A, which people with Fabry disease don't produce enough of. The trial is now complete and tested whether different doses were safe and well-tolerated.
WHY IT MATTERSThis completed Phase 1/2 trial is the first human test of ST-920, meaning results could help determine if gene therapy can provide long-term relief for Fabry disease patients who currently require lifelong enzyme replacement infusions.
ResearchBIORXIVApr 14
Researchers studied how much money families and the healthcare system spend on KCNT1-related disorders, a rare genetic brain condition that causes severe seizures starting in early childhood. The study used information from both families caring for patients and medical records to understand the true financial costs. This is important because there are currently no approved treatments that can change the course of the disease, so families face lifelong expensive care.
WHY IT MATTERSIf you have a child with KCNT1-related epilepsy, this research documents the financial burden your family faces and provides evidence that could support insurance coverage decisions and funding for new treatments.
ResearchCLINICALTRIALSApr 14
Researchers completed a small study with 14 children who have rare diseases and their parents to test whether a social robot could help families cope better. The robot was designed to provide support and improve relationships between parents and children while reducing stress and worry. The study looked at whether families found the robot helpful and acceptable to use in their daily lives.
WHY IT MATTERSThis completed trial demonstrates a novel approach to family-centered support for rare disease patients—social robots may offer accessible emotional and relational support when specialized mental health resources for rare disease families are limited.
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.
PolicyRSSApr 13
The FDA sent reminders to over 2,200 companies and research groups telling them they must share their clinical trial results on a public website called ClinicalTrials.gov. This is a requirement, not optional. The FDA is making sure that information about how medical treatments work—whether they help patients or cause problems—gets shared publicly so everyone can see the results.
WHY IT MATTERSWhen companies hide negative trial results, patients may not know the full picture about whether a treatment actually works, which could affect decisions about whether to participate in a trial or use a medication.
ResearchBIORXIVApr 13
A research study about how parents cope when their children have rare diseases and doctors can't quickly figure out what's wrong was withdrawn from a scientific website. The authors submitted the study with false information, so it is no longer available for other researchers to read or use.
WHY IT MATTERSThis withdrawal highlights the importance of verifying research quality and integrity — families relying on studies about rare disease diagnosis need accurate, trustworthy information to guide their own experiences.
ResearchBIORXIVApr 12
Scientists created animal models (using fish and mice) that mimic DeSanto-Shinawi Syndrome, a rare genetic disorder caused by mutations in the WAC gene. These animal models showed symptoms similar to what patients experience, including developmental delays, intellectual disability, autism-like behaviors, and seizures. This research helps scientists understand how WAC gene mutations cause these symptoms and could lead to better treatments in the future.
WHY IT MATTERSFor the first time, researchers have created animal models that reproduce the key symptoms of DeSanto-Shinawi Syndrome, which could accelerate the discovery of why patients develop autism, seizures, and developmental delays—and potentially identify new treatment targets.
ResearchPUBMEDApr 12
Researchers in Canada studied 715 patients with rare diseases who had their entire genome sequenced (a test that reads all of a person's genetic code). The study found that genome sequencing helped doctors in many ways: it confirmed diagnoses in some patients, changed how doctors treated 36% of patients, found new research opportunities, and identified genetic information that relatives should know about. The test also helped doctors avoid unnecessary tests in 88% of cases.
WHY IT MATTERSIf you have an undiagnosed rare disease, this research shows that whole genome sequencing can help your doctor find answers and change your treatment plan — and it may also reveal important genetic information for your family members.
ResearchPUBMEDApr 11
Researchers at Boston Children's Hospital created a new system that automatically re-examines genetic test results from patients with rare diseases as doctors learn more about genes and diseases. Many patients get genetic tests but don't get answers the first time. This new system helps find answers by looking at old test results again without waiting for doctors to manually review each one.
WHY IT MATTERSIf you or your child had genetic testing that didn't find a diagnosis, this system could identify the cause of your rare disease by re-analyzing your existing test results as medical knowledge improves—potentially saving you years of diagnostic searching.