Genotype and Phenotype Correlation in Hereditary Thrombotic Thrombocytopenic Purpura (Upsh
Hereditary thrombotic thrombocytopenic purpura (Upshaw-Schulman syndrome) is a rare disorder characterized by thrombocytopenia as a result of platelet consumption, microangiopathic hemolytic anemia, occlusion of the microvasculature with von Willebrand factor-platelet-thrombic and ischemic end organ damage. The underly
| Condition(s) | Thrombotic Thrombocytopenic Purpura, Congenital Thrombotic Thrombocytopenic Purpura, Familial Thrombotic Thrombocytopenic Purpura, Thrombotic Thrombocytopenic Purpura, Congenital, Upshaw-Schulman Synd |
|---|---|
| Status | Recruiting |
| Study type | Observational |
| Summary | Hereditary thrombotic thrombocytopenic purpura (Upshaw-Schulman syndrome) is a rare disorder characterized by thrombocytopenia as a result of platelet consumption, microangiopathic hemolytic anemia, occlusion of the microvasculature with von Willebrand factor-platelet-thrombic and ischemic end organ damage. The underlying patho-mechanism is a severe congenital ADAMTS13 (a disintegrin and metalloproteinase with thrombospondin type 1 motif, 13) deficiency which is the result of compound heterozygous or homozygous ADAMTS13 gene mutations. Although considered a monogenic disorder the clinical presentation in Upshaw-Schulman syndrome patients varies considerably without an apparent genotype-phenotype correlation. In 2006 we have initiated a registry for patients with Upshaw-Schulman syndrome an |
| Who can participate | 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) |
| Sex | All |
| Lead sponsor | Insel Gruppe AG, University Hospital Bern |
| Locations | Oklahoma City, Oklahoma, United States; Vienna, Austria; Prague, Czechia; Hamburg, Germany; Kashihara, Nara, Japan; Trondheim, Norway (+1 more sites) |
| Start date | 2006-10 |
| NCT ID | NCT01257269 |
| Official listing | https://clinicaltrials.gov/study/NCT01257269 |