Clinical trialCLINICALTRIALSMar 26
Trial Now Recruiting: Developing a Pipeline to Employ RNA-Seq as a Complementary Diagnostic Tool in Rare Diseases (NCT05996731)
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.