Understanding rare gene mutations in atypical hemolytic uremic syndrome for personalized therapy
Official title: Functional Implications of Rare Gene Mutations in aHUS Open the Door to Personalized Therapy
Run by Mario Negri Institute for Pharmacological Research · NCT05805202 · Data updated 2026-11-12
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
| Study type | Interventional |
|---|---|
| Sex | All |
| Enrollment | 112 (estimated) |
| Sponsor | Mario Negri Institute for Pharmacological Research Academic / other |
| Locations | 1 site (Ranica, BG) |
| Status | Recruiting |
| Started | May 3, 2023 |
| Main results expected | December 31, 2026 |
| Study ends | December 31, 2026 |
| Registry record updated | September 29, 2025 |
| Trial ID | NCT05805202 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates for this study include adults and children diagnosed with atypical hemolytic uremic syndrome who meet specific clinical criteria.
✕Probably 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.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
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.
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 gone: While this approach is novel in the context of aHUS, similar studies targeting genetic mutations in other conditions have shown promising results.
Who can join: the full rules
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 it's running
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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
Similar studies
Other studies for the same condition or treatment. Recruiting studies are listed first.
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Ravulizumab Outcomes in Polish Patients with aHUS
This observational study in Poland follows patients with atypical hemolytic uremic syndrome who are treated with ravulizumab to see how they do over time in real-world clinical care.
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Ravulizumab for people with clinical aHUS
This study will test whether ravulizumab raises platelet counts in people diagnosed with clinical atypical hemolytic uremic syndrome (aHUS), including those with certain infections (excluding pneumococcal and STEC), pregnancy/postpartum, recent kidney transplant, malignant hypertension, or autoimmune conditions.
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National Registry for Rare Kidney Diseases
This study is collecting health information from people with rare kidney diseases to help improve treatments and create better care guidelines.
-
Using RNA sequencing to diagnose rare genetic diseases
This study is testing if a new RNA sequencing method can help find the genetic causes of rare diseases in people who haven't been diagnosed after other tests.
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Switching from anti-C5 antibody treatment to iptacopan for aHUS patients
This study is testing if switching to a new treatment called iptacopan can help people with atypical hemolytic uremic syndrome (aHUS) feel better after using a different medication.
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Long-term evaluation of iptacopan for patients with atypical hemolytic uremic syndrome
This study is testing how well the medication iptacopan works and how safe it is for people with atypical hemolytic uremic syndrome over a longer period of time.
How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.