Study on Rare Gene Mutations in Atypical Hemolytic Uremic Syndrome to Explore Personalized Treatments

What this Trial Is About

Atypical Hemolytic Uremic Syndrome aHUS is a rare disease that causes destruction of red blood cells, low platelet counts, and blockage of small blood vessels, especially affecting the kidneys. Unlike the typical form caused by E. coli infection, aHUS may be linked to genetic mutations affecting the immune systems complement pathway or other genes like DGKE. This study aims to better understand the function of these rare genetic mutations in aHUS and explore potential personalized treatments. The study will include 110 children and adults diagnosed with aHUS who carry mutations in either the MCP or DGKE genes, along with 2 healthy volunteers as controls. Participants will provide blood and urine samples for laboratory analysis. Researchers will create patient-specific stem cells and turn them into endothelial cells to study their characteristics and viability. This process will help reveal differences between patients and healthy individuals. During the study, participants will undergo a single blood draw and urine test. Researchers will assess cell generation, differentiation, and function from the collected samples. The primary outcomes include the successful creation and detailed study of patient-derived cells. The study will monitor these laboratory measures once during the trial to better understand the disease mechanisms and identify possible drug targets. Participation length varies with no additional treatment given.

Functional Implications of Rare Gene Mutations in aHUS Open the Door to Personalized Therapy