Understanding hereditary thrombotic thrombocytopenic purpura and its genetic factors

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This observational study focuses on hereditary thrombotic thrombocytopenic purpura (Upshaw-Schulman syndrome), a rare disorder caused by severe deficiency of the ADAMTS13 enzyme due to genetic mutations. The study aims to create a registry of patients and their family members to document clinical presentations, treatment responses, and potential triggers for acute episodes. By analyzing genotype-phenotype correlations, the research seeks to uncover factors that influence the variability in clinical outcomes among patients. The findings may help improve understanding and management of this complex condition.

Why it matters

Who can join: the full rules

Inclusion Criteria:

* Severe ADAMTS13 deficiency ( ≤ 10% activity) and no ADAMTS 13 inhibitor on two or more occasions at least one month apart
* Being a family member of a confirmed or suspected patient
* Molecular analysis of ADAMTS13 gene with one or more mutations and/or positive infusion trial (full recovered ADAMTS13 activity after infused fresh frozen plasma (FFP) with a plasma half-life of 2-4 days)

Where it's running

• University of Oklahoma Health Sciences Center, Department of Medicine, PO Box 26901
  Oklahoma City, Oklahoma, United States Recruiting
• Medical University of Vienna, Department of Medicine 1, Div. Hematology and Hemostasis Waehringer Guertel 18-20
  Vienna, Austria Recruiting
• Institute of Hematology and Blood Transfusion, Coagulation Laboratory, U nemocnice 1
  Prague, Czechia Recruiting
• Nara Medical University, Department of Blood Transfusion Medicine, Shijyo-cho 840
  Kashihara, Nara, Japan Recruiting
• Trondheim University St Olavs Hospital, Department of Hematology, PO Box 3250 Sluppen
  Trondheim, Norway Recruiting
• University Clinic of Hematology and Central Hematology Laboratory, Bern University Hospital and the University of Bern, Inselspital
  Bern, Switzerland Recruiting

Study contacts

• Study coordinator: Johanna A Kremer Hovinga, MD
• Email: johanna.kremer@insel.ch
• Phone: +41 31 632 02 65

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

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• Long-term outcomes for people with immune TTP in the French national TMA cohort

  This project uses past medical records to see long-term health outcomes and complications in people in France who had immune thrombotic thrombocytopenic purpura (iTTP).

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• Understanding the immune response in Thrombotic Thrombocytopenic Purpura

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• Survey of a treatment for congenital thrombotic thrombocytopenic purpura

  This study is testing a new treatment called recombinant ADAMTS13 to see if it helps people with congenital thrombotic thrombocytopenic purpura feel better and stay healthy over 18 months.

  Recruiting Takeda · Tokyo, Tokyo · NCT06441578

How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.