At a glance
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Venous Thromboembolism in Myotonic Dystrophy Type 1
In Brief
A clinical study evaluating Haemostasis tests, Monocytes and megacaryocytes culture and RNA extraction, and 1 other intervention for Myotonic Dystrophy 1. Completed, enrolled 130 participants across 1 site.
Detailed Summary
Investigators identified a high risk of deep vein thrombosis and pulmonary embolism in patients presenting myotonic dystrophy type 1 treated in our hospital, 10 times higher than general population matched on age and sex. These venous thromboembolic events were frequently severe and lethal. Investigators suspect that this high risk of venous thromboembolism is due to coagulation abnormalities specific to myotonic dystrophy type 1. The purpose of this study is to determine: 1/ if there is a hypercoagulable state in myotonic dystrophy type 1 by testing patient's coagulation, and 2/ if genes encoding factors involved in coagulation have modified expression resulting in this hypercoagulable state. Understanding the pathophysiology will help preventing venous thromboembolism in these patients. It is the first study to describe this specific issue.
Study Details
Timeline
Interventions
Venipuncture of 30 milliliters of blood. The following tests will be performed: thromboelastography (TEG®), standard tests of coagulation, genetic thrombophilia, lupus anticoagulant, fibrinolysis markers (Alpha-2-antiplasmin, amidolytic activity, plasmin anti-plasmin complexes, Plasminogen Activator Inhibitor-1 (PAI-1) antigen, plasminogen amydolytic activity), and a global test of fibrinolytic activity.
Venipuncture of 60 milliliters of blood. Monocytes and megacaryocytes culture. RNA extraction from monocytes and megacaryocytes.
RNA extraction from liver tissue