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

Launched by MARIO NEGRI INSTITUTE FOR PHARMACOLOGICAL RESEARCH · Mar 28, 2023

Keywords

ClinConnect Summary

This clinical trial is studying a rare condition called atypical Hemolytic Uremic Syndrome (aHUS), which affects how blood cells and small blood vessels function, often leading to kidney problems. Researchers are particularly interested in understanding how certain rare gene mutations, especially in the DKGE gene, might influence the disease and exploring potential personalized treatments. The trial aims to compare cells from patients with these genetic mutations to those of healthy individuals, looking for ways to correct any abnormalities.

To participate in this study, individuals—both adults and children—must have a confirmed diagnosis of aHUS, which involves specific blood test results indicating low red blood cells and platelets, along with kidney failure. Participants will need to give written consent to join. Throughout the trial, they can expect to undergo various assessments to better understand their condition and may contribute to the development of new therapies tailored to their specific genetic makeup. It's important to note that individuals with certain other conditions, like Thrombotic Thrombocytopenic Purpura (TTP) or infections related to Escherichia coli, will not be eligible for this study.

Gender

ALL

Eligibility criteria

• Inclusion Criteria:
• • Adults and children with aHUS defined by history of microangiopathic hemolytic anemia and thrombocytopenia (hematocrit (Ht) \<30%, hemoglobin (Hb) \<10 g/dL, LDH \>500 IU/L, undetectable haptoglobin, fragmented erythrocytes in the peripheral blood smear with negative Coomb's test, and platelet count \<150,000/microL), associated with acute renal failure.
• • Written informed consent
• Exclusion Criteria:
• • TTP (ADAMTS13 activity \<10%)
• • STEC-HUS (presence of stx and eae genes or Shiga-toxin in the stools and/or serum antibodies against Shiga-toxin and/or STEC LPS).
• • Disseminated intravascular coagulation (prolonged thromboplastin time and lower than normal fibrinogen levels).