Trial Now Recruiting: Developing a Pipeline to Employ RNA-Seq as a Complementary Diagnostic Tool in Rare Diseases (NCT05996731)
WHY IT MATTERS
If 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.
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.
NCT ID: NCT05996731 Status: RECRUITING Conditions: Atypical Hemolytic Uremic Syndrome, Membranoproliferative Glomerulonephritis, Autosomal Dominant Polycystic Kidney, Healthy Phase: NA Enrollment: 105 Sponsor: Mario Negri Institute for Pharmacological Research Summary: This project aims to identify, through RNA-Seq technology, the genetic alterations underlying undiagnosed rare diseases in pediatric and adult patients with early onset and with negative WES. * Objective 1: Set up and validate techniques. Set-up and validation of the transcriptome analysis protocol in healthy subjects and in patients with known splicing alterations and/or altered RNA expression. * Objective 2: Diagnostic phase. Study of splicing alterations and RNA levels in cultured fibroblast
YOU CAN ACT ON THIS
If you or your child have undiagnosed symptoms of atypical hemolytic uremic syndrome, membranoproliferative glomerulonephritis, or autosomal dominant polycystic kidney disease with negative genetic testing, contact the Mario Negri Institute to ask about enrollment eligibility.