Condition: Thrombotic Thrombocytopenic Purpura · Congenital Thrombotic Thrombocytopenic Purpura · Familial Thrombotic Thrombocytopenic Purpura · Sponsor: Insel Gruppe AG, University Hospital Bern
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 and their family members to identify possible triggers of acute bouts of TTP, to document individual clinical courses and treatment requirements as well as possible side effects of long standing plasma substitution, e.g. alloantibody formation or viral infections.
This description comes directly from the study's public registry record.
Johanna A Kremer Hovinga, MD · +41 31 632 02 65 · johanna.kremer@insel.ch
Marissa Schraner, Ph.D. · +41 31 632 56 90 · marissa.schraner@insel.ch
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| 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 |
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Source record: clinicaltrials.gov/study/NCT01257269