Status:
RECRUITING
Genotype and Phenotype Correlation in Hereditary Thrombotic Thrombocytopenic Purpura (Upshaw-Schulman Syndrome)
Lead Sponsor:
Insel Gruppe AG, University Hospital Bern
Collaborating Sponsors:
Swiss National Science Foundation
Mach Gaensslen Foundation
Conditions:
Thrombotic Thrombocytopenic Purpura
Congenital Thrombotic Thrombocytopenic Purpura
Eligibility:
All Genders
Brief Summary
Hereditary thrombotic thrombocytopenic purpura (Upshaw-Schulman syndrome) is a rare disorder characterized by thrombocytopenia as a result of platelet consumption, microangiopathic hemolytic anemia, o...
Detailed Description
Background Thrombocytopenia and microangiopathic hemolytic anemia together with a severely deficient ADAMTS13 activity confirm the diagnosis of acute thrombotic thrombocytopenic purpura (TTP). Today ...
Eligibility Criteria
Inclusion
- 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)
Exclusion
Key Trial Info
Start Date :
October 1 2006
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
October 1 2030
Estimated Enrollment :
450 Patients enrolled
Trial Details
Trial ID
NCT01257269
Start Date
October 1 2006
End Date
October 1 2030
Last Update
October 11 2023
Active Locations (7)
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1
University of Oklahoma Health Sciences Center, Department of Medicine, PO Box 26901
Oklahoma City, Oklahoma, United States, 73126-0901
2
Medical University of Vienna, Department of Medicine 1, Div. Hematology and Hemostasis Waehringer Guertel 18-20
Vienna, Austria, A-1090
3
Institute of Hematology and Blood Transfusion, Coagulation Laboratory, U nemocnice 1
Prague, Czechia, CZ-12820
4
University Medical Center Hamburg-Eppendorf, Department of Pediatric Hematology and Oncology, Martinistr 52
Hamburg, Germany, D-20246