Clinical trialCLINICALTRIALS5 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.
Clinical trialCLINICALTRIALSApr 1
Researchers are looking for 88 people with Fragile X Syndrome or Creatine Transporter Deficiency to test a new imaging technology that can see how the brain works. Both of these are genetic conditions that affect how the brain develops and cause intellectual disability. This study might help doctors better understand and diagnose these conditions in the future.
WHY IT MATTERSThis trial is recruiting patients with two of the most common X-linked intellectual disability disorders and may provide a new diagnostic tool that could improve how these conditions are identified and monitored.
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 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.
Clinical trialCLINICALTRIALSMar 26
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.