Understanding hereditary thrombotic thrombocytopenic purpura and its genetic factors

Thrombotic Thrombocytopenic Purpura Registry - A Prospective Observational Study for Patients Suffering From Hereditary Thrombotic Thrombocytopenic Purpura (Upshaw-Schulman Syndrome)

This study is trying to learn more about hereditary thrombotic thrombocytopenic purpura by gathering information from patients and their families to see how genetics affect the condition and its treatment.

Quick facts

• Study type: Observational
• Enrollment: 450 (estimated)
• Sex: All
• Sponsor: Insel Gruppe AG, University Hospital Bern (Academic / other)
• Locations: 7 sites (Oklahoma City, Oklahoma and 6 other locations)
• Trial ID: NCT01257269 on ClinicalTrials.gov

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.

Who should consider this trial

Good fit: Ideal candidates include individuals with severe ADAMTS13 deficiency and their family members who may carry mutations.

Not a fit: Patients with acquired forms of thrombotic thrombocytopenic purpura or those without severe ADAMTS13 deficiency may not benefit from this study.

Why it matters

Potential benefit: If successful, this study could lead to better personalized treatment strategies for patients with hereditary thrombotic thrombocytopenic purpura.

How similar studies have performed: While there have been studies on thrombotic thrombocytopenic purpura, this specific focus on hereditary forms and genotype-phenotype correlations is relatively novel.

Eligibility criteria

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 this trial is running

Oklahoma City, Oklahoma and 6 other locations

• 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)
• University Medical Center Hamburg-Eppendorf, Department of Pediatric Hematology and Oncology, Martinistr 52 — Hamburg, Germany (Not_yet_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

Conditions Thrombotic Thrombocytopenic Purpura; Congenital Thrombotic Thrombocytopenic Purpura; Familial Thrombotic Thrombocytopenic Purpura; Thrombotic Thrombocytopenic Purpura, Congenital; Upshaw-Schulman Syndrome; Thrombotic thrombocytopenic purpura; ADAMTS13; Von Willebrand factor