Venous Thromboembolism in Myotonic Dystrophy Type 1

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.

Conditions

• Myotonic Dystrophy 1

Interventions

BIOLOGICAL

Haemostasis tests

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.

BIOLOGICAL

Monocytes and megacaryocytes culture and RNA extraction

Venipuncture of 60 milliliters of blood. Monocytes and megacaryocytes culture. RNA extraction from monocytes and megacaryocytes.

GENETIC

RNA extraction

RNA extraction from liver tissue

Sponsors & Collaborators

• AFM-Téléthon (Funding)

  collaborator UNKNOWN

• Recherche Clinique Paris Descartes Necker Cochin Sainte Anne

  collaborator OTHER

• URC-CIC Paris Descartes Necker Cochin

  collaborator OTHER

• Assistance Publique - Hôpitaux de Paris

  lead OTHER

Principal Investigators

• Karim Wahbi, MD, PhD · Assistance Publique Hôpitaux de Paris (AP-HP)

• Denis Duboc, MD, PhD · Assistance Publique Hôpitaux de Paris (AP-HP)

• Michaela Fontenay, MD, PhD · Assistance Publique Hôpitaux de Paris (AP-HP)

• Denis Furling, Md, PhD · Université Paris 6 Pierre et Marie Curie

Study Design

Allocation

NON_RANDOMIZED

Purpose

OTHER

Masking

NONE

Model

PARALLEL

Eligibility

Min Age

18 Years

Sex

ALL

Healthy Volunteers

Yes

Timeline & Regulatory

Start

2018-06-11

Primary Completion

2023-03-15

Completion

2023-03-15

Countries

• France

Study Locations