Understanding rare gene mutations in atypical hemolytic uremic syndrome for personalized therapy
Functional Implications of Rare Gene Mutations in aHUS Open the Door to Personalized Therapy
This study is testing how rare gene mutations in people with atypical hemolytic uremic syndrome can help doctors create personalized treatments to improve their health.
Quick facts
| Phase | Not applicable |
|---|---|
| Study type | Interventional |
| Enrollment | 112 (estimated) |
| Sex | All |
| Sponsor | Mario Negri Institute for Pharmacological Research Academic / other |
| Locations | 1 site (Ranica, BG) |
| Trial ID | NCT05805202 on ClinicalTrials.gov |
What this trial studies
This study investigates the functional implications of rare gene mutations in atypical hemolytic uremic syndrome (aHUS) to pave the way for personalized treatment options. It focuses on patients with aHUS characterized by specific clinical and laboratory findings, including microangiopathic hemolytic anemia and thrombocytopenia. The methodology involves blood sampling and urine analysis to assess genetic abnormalities related to the complement system, which plays a crucial role in the disease's pathology. By identifying these mutations, the study aims to tailor therapies that could improve patient outcomes.
Who should consider this trial
Good fit: Ideal candidates for this study include adults and children diagnosed with atypical hemolytic uremic syndrome who meet specific clinical criteria.
Not a fit: Patients with thrombotic thrombocytopenic purpura (TTP) or those with Shiga toxin-producing E. coli-related hemolytic uremic syndrome will not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to more effective, personalized therapies for patients suffering from atypical hemolytic uremic syndrome.
How similar studies have performed: While this approach is novel in the context of aHUS, similar studies targeting genetic mutations in other conditions have shown promising results.
Eligibility criteria
Show full inclusion / exclusion 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).
Where this trial is running
Ranica, BG
- Centro di Ricerche Cliniche per le Malattie Rare "Aldo e Cele Daccò" — Ranica, Bg, Italy (Recruiting)
Study contacts
- Study coordinator: Marina Noris, Dr.
- Email: marina.noris@marionegri.it
- Phone: +3903545351
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.