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Researchers are looking for 1,000 people of any age who have a rare blood disorder called FPDMM, which is caused by a change in the RUNX1 gene. People with this condition may bleed easily and for longer than normal when injured. This study will help doctors better understand the disease, diagnose it more accurately, and find better ways to treat it.
WHY IT MATTERSThis is an active recruiting trial sponsored by the National Human Genome Research Institute seeking 1,000 participants with RUNX1-variant FPDMM — participation could directly advance understanding of diagnosis and treatment for this rare inherited bleeding disorder.
Clinical trialCLINICALTRIALSMar 26
Researchers are testing a new gene therapy called SGT-212 for Friedreich's ataxia, a rare disease that affects how the body moves and coordinates. This is the first time this treatment is being tested in humans. The study will enroll 10 patients and follow them for about 5 years to see if the treatment is safe and works well.
WHY IT MATTERSThis is the first human trial of SGT-212 for Friedreich's ataxia, offering eligible patients access to a potentially disease-modifying gene therapy that addresses the underlying genetic cause rather than just managing symptoms.
Clinical trialCLINICALTRIALSMar 26
Researchers are looking for 1,500 people with inherited eye diseases caused by rare genetic changes to join a study. The study has two parts: first, they'll collect genetic information and eye health data from participants, and second, they'll follow some participants over time to understand how these eye diseases progress. This international study is now accepting new participants.
WHY IT MATTERSIf you have an inherited retinal disease with a rare genetic variant, enrolling in this registry could help researchers understand your condition better and speed up development of future treatments while contributing to a global database of genetic information.
Clinical trialCLINICALTRIALSMar 26
Researchers are testing a new treatment for calciphylaxis, a serious condition where calcium builds up in blood vessels and skin tissue, causing painful sores. The treatment uses special cells from amniotic fluid (the fluid around a baby during pregnancy) to see if they can help heal the damage. This is an early-stage trial with a small group of 9 patients to check if the treatment is safe and works.
WHY IT MATTERSCalciphylaxis has very few treatment options and high mortality rates — this trial offers patients with chronic kidney disease a chance to access an experimental stem cell therapy that could reduce tissue damage and improve survival.
Clinical trialCLINICALTRIALSMar 26
Researchers are looking for pregnant women and breastfeeding mothers who have taken or are taking a medication called odevixibat to join a safety study. The study will track the health of these women and their babies to make sure the medication is safe to use during pregnancy and while breastfeeding. About 20 people will participate, and doctors will collect information from the mothers, babies, and healthcare providers involved in their care.
WHY IT MATTERSThis surveillance program is recruiting pregnant and lactating women exposed to odevixibat to establish safety data for a medication used in rare bile acid disorders, filling a critical gap in pregnancy and lactation safety information.
Clinical trialCLINICALTRIALSMar 26
Researchers are testing a new cancer treatment called CART19 for children and young adults with specific types of blood cancer (B-ALL). The treatment uses the patient's own immune cells that are modified in a lab to fight cancer cells. This trial is looking for patients with rare, high-risk forms of this cancer, including some cases that have come back after previous treatment.
WHY IT MATTERSThis trial is actively recruiting children and young adults with hard-to-treat B-ALL subtypes (hypodiploid, t(17;19), KMT2A, and CNS relapse cases) — these patients have limited treatment options and this study offers access to an advanced cell therapy approach.
ResearchCLINICALTRIALSMar 26
Researchers at a hospital in France are collecting biological samples (like blood) from 1,000 patients with rare nervous system diseases that may be caused by the immune system attacking the body. These samples will help scientists find new ways to diagnose and treat these diseases by identifying special markers in the blood that show disease activity.
WHY IT MATTERSIf you have a rare autoimmune neurological disease, participating in this sample collection could help researchers discover new biomarkers and treatments specifically for conditions like yours.
Clinical trialCLINICALTRIALSMar 26
Doctors are building a national database to collect information from 500 patients with pulmonary alveolar proteinosis (PAP), a rare lung disease. This registry will help researchers better understand PAP, improve how doctors diagnose it, and test new treatments. Patients who join will have a voice in deciding what research gets done.
WHY IT MATTERSThis is an active recruitment opportunity for PAP patients to directly influence research priorities and gain access to new diagnostic tests and experimental therapies being evaluated through the registry.
Clinical trialCLINICALTRIALSMar 26
Researchers are testing a new experimental cancer treatment called BNT326 to see if it is safe and works well for people with advanced solid tumors (cancers that have spread or come back after treatment). The study will first test BNT326 alone, then test it combined with other experimental treatments. About 980 people will participate in this Phase 1 and Phase 2 trial.
WHY IT MATTERSThis trial is actively recruiting patients with advanced solid tumors across multiple sites, offering access to a novel immunotherapy approach from BioNTech before it becomes widely available.
Clinical trialCLINICALTRIALSMar 26
Researchers are looking for 1,500 people with rare blood fat disorders to join a long-term study. The study will track how these conditions change over time and how people's bodies respond to different treatments. This research is sponsored by the National Heart, Lung, and Blood Institute, a major government health organization.
WHY IT MATTERSThis natural history study will help doctors better understand rare lipid disorders that are often genetically inherited, potentially leading to improved treatments and monitoring strategies for patients with uncommon dyslipidemias.
Clinical trialCLINICALTRIALSMar 26
Researchers are testing a new drug called zipalertinib to treat advanced lung cancer in patients who have a specific genetic mutation called EGFR exon 20 insertion. This mutation makes lung cancer harder to treat with standard medications. The study is looking for 220 patients to see if zipalertinib is safe and effective for this type of cancer.
WHY IT MATTERSThis trial targets EGFR exon 20 insertion mutations in advanced NSCLC, a genetic subtype that historically has limited treatment options and poor response to standard EGFR inhibitors.
ResearchCLINICALTRIALSMar 26
Researchers are studying how doctors treat a rare muscle weakness disease called generalized myasthenia gravis (gMG) in Russia. They want to understand what treatments work best in real-world practice by following 450 patients over time. This study is not testing a new drug, but rather collecting information about treatments that are already being used.
WHY IT MATTERSIf you have AChR-antibody positive generalized myasthenia gravis in Russia, this study could help doctors understand which current treatment approaches work best for patients like you in your region.
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Researchers in France are looking for 1,000 families with children who have intellectual disabilities or autism caused by genetic changes. Families will answer questions online about their child's health and development to help doctors better understand these conditions and create personalized treatment plans in the future.
WHY IT MATTERSThis study directly recruits families affected by genetic intellectual disability and autism spectrum disorder to build a database that could lead to personalized medicine approaches for these conditions.
Clinical trialCLINICALTRIALSMar 26
Researchers are recruiting 2,000 people with rare genetic disorders to participate in a study using a new technology called genome sequencing. This technology reads a person's entire genetic code to find which gene is causing their disease. The goal is to help doctors better diagnose and treat patients with rare conditions that are hard to identify with current testing methods.
WHY IT MATTERSIf you or a family member has an undiagnosed rare disorder affecting development or birth defects, this trial could identify the genetic cause—potentially opening doors to targeted treatment and genetic counseling for relatives.
Clinical trialCLINICALTRIALSMar 26
Researchers are looking for pregnant women or women planning to get pregnant who have rare blood vessel diseases like Hereditary Hemorrhagic Telangiectasia, Marfan syndrome, lymphedema, or arteriovenous malformations. This study will track their pregnancies to understand what complications might happen for the mother and baby, since doctors don't have good information about this yet.
WHY IT MATTERSThis is the first large study to prospectively track pregnancy outcomes in women with these rare vascular diseases, filling a critical gap in medical knowledge that could directly improve care and safety for pregnant patients with these conditions.
Clinical trialCLINICALTRIALSMar 26
Researchers at the National Heart, Lung, and Blood Institute are looking for 1,000 people to join a study about heart and blood vessel diseases that run in families. They want to collect information and blood samples from people who have these genetic diseases, their relatives, and healthy volunteers to better understand how genes affect the heart and blood vessels. This study is open to anyone age 2 and older who may have a genetic condition affecting their heart or blood vessels.
WHY IT MATTERSThis is a large-scale discovery study actively recruiting now that could help identify new genetic causes of inherited heart and vascular diseases, potentially leading to earlier diagnosis and treatment options for affected families.
Clinical trialCLINICALTRIALSMar 26
Researchers are looking for 20,000 people with rare diseases that doctors haven't been able to diagnose yet. Many patients spend years going to different doctors and getting repeated tests without finding answers. This study, run by the National Human Genome Research Institute, aims to help solve medical mysteries by using genetic testing and careful evaluation to figure out what's causing people's symptoms.
WHY IT MATTERSIf you or a family member has spent years seeking a diagnosis without answers, this large national study offers free genetic evaluation and expert medical review specifically designed to identify undiagnosed rare diseases.
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.
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.
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.