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Clinical Trials in Norway / NCT01257269
Recruiting Observational

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

NCT01257269 · tracked via the Priya Life Science Norway tracker
Sponsor
Insel Gruppe AG, University Hospital Bern
Phase
Observational
Started
2006-10
Last updated
2023-10-11

Condition(s) studied

Thrombotic Thrombocytopenic PurpuraCongenital Thrombotic Thrombocytopenic PurpuraFamilial Thrombotic Thrombocytopenic PurpuraThrombotic Thrombocytopenic Purpura, CongenitalUpshaw-Schulman Syndrome

Investigational drug(s) / intervention(s)

Observation

Observation: No interventions planned: treatment of patients at the discretion of the treating/responsible physician

Study 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 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.

Eligibility

Sex
ALL
Min age
—
Max age
—
Healthy volunteers
No
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)

Primary outcome measure(s)

Trial sites (7)

FacilityCityRegionStatus
University of Oklahoma Health Sciences Center, Department of Medicine, PO Box 26901 Oklahoma City Oklahoma 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 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

More Insel Gruppe AG, University Hospital Bern trials in Norway

Intravenous Thrombolysis in Patients With Ischemic Stroke and Recent Ingestion of Direct Oral Anticoagulants Recruiting
Safety and Efficacy of Intravenous Thrombolysis in Patients With Ischemic Stroke and Direct Oral Anticoagulants Intake Recruiting
Improving Patient Safety by Supporting Older Adults in Managing Sleep Problems. Active, not recruiting
Official registry record

This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.

View NCT01257269 on ClinicalTrials.gov ↗ ← All trials in Norway