遺伝性血栓性血小板減少性紫斑病（アップショー・シュルマン症候群）における遺伝子型と表現型の相関関係

基本情報

NCT ID

NCT01257269

ステータス

募集中

試験のフェーズ

-

試験タイプ

観察

目標被験者数

450

治験依頼者名

Insel Gruppe AG, University Hospital Bern

概要

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.

対象疾患

介入

依頼者（Sponsor）

実施施設 (1)