Genotype and Phenotype Correlation in Hereditary Thrombotic Thrombocytopenic Purpura (Upshaw-Schulman Syndrome)

Recruiting now

Conditions studied: Thrombotic Thrombocytopenic Purpura, Congenital Thrombotic Thrombocytopenic Purpura, Familial Thrombotic Thrombocytopenic Purpura, Thrombotic Thrombocytopenic Purpura, Congenital, Upshaw-Schulman Syndrome

In brief

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.

Key facts

Study ID

NCT01257269

Run by

Insel Gruppe AG, University Hospital Bern

People needed

450

Starts

2006-10-01

Expected to finish

2030-10-01

Last updated by the study team

2023-10-11

Who can join

Age: any. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• 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 it is running

• University Clinic of Hematology and Central Hematology Laboratory, Bern University Hospital and the University of Bern, Inselspital — Bern, Switzerland (enrolling)
• Medical University of Vienna, Department of Medicine 1, Div. Hematology and Hemostasis Waehringer Guertel 18-20 — Vienna, Austria (enrolling)
• Institute of Hematology and Blood Transfusion, Coagulation Laboratory, U nemocnice 1 — Prague, Czechia (enrolling)
• University of Oklahoma Health Sciences Center, Department of Medicine, PO Box 26901 — Oklahoma City, Oklahoma, United States (enrolling)
• Nara Medical University, Department of Blood Transfusion Medicine, Shijyo-cho 840 — Kashihara, Nara, Japan (enrolling)
• Trondheim University St Olavs Hospital, Department of Hematology, PO Box 3250 Sluppen — Trondheim, Norway (enrolling)
• University Medical Center Hamburg-Eppendorf, Department of Pediatric Hematology and Oncology, Martinistr 52 — Hamburg, Germany

Full record on ClinicalTrials.gov

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