Venous Thromboembolism in Myotonic Dystrophy Type 1

Plain-language summary

This study examines the risk of venous thromboembolism (VTE), or blood clots in the veins, in patients with myotonic dystrophy type 1 (DM1), using blood clotting tests and cell culture/RNA analyses. Adults over 18 with genetically proven DM1, those with a history of VTE, or healthy volunteers may take part. It was run as a study with no assigned phase and has been completed.

The summary above is a plain-language rendering of the official record. The original English title is shown for reference.

Trial details

Phase

Not Applicable

Status

Completed

Sponsor

Assistance Publique - Hôpitaux de Paris

Intervention

Haemostasis tests, Monocytes and megacaryocytes culture and RNA extraction, RNA extraction

Start date

6/11/2018

Estimated completion

3/15/2023

Countries

France

Related genes

Locations

• Paris, France

Eligibility criteria

Criteria are reproduced from the ClinicalTrials.gov record in the original English. Only the trial team can determine eligibility.

Inclusion Criteria:

1. Population N°1

   * Age over 18 years
   * Patient living in France and with medical insurance
   * Patient having given his informed and written consent
   * DM1 groups: genetically proven DM1
   * VTE groups: at least 1 history of VTE (PE and/or DVT)
   * Healthy volunteers: patient without any medical history (no DM1, no VTE, no thrombophilia), and without taking any anti-thrombotic medication
2. Population N°2

   * Liver tissue of patients with genetically proven DM1 (tissue bank)
   * Liver tissue of patients without DM1 or any history of VTE (tissue bank)

Exclusion Criteria:

* Patient opposed to data collection and analysis

  1\. Population N°1
* Genetically proven thrombophilia
* Anti-thrombotic medication
* Hemoglobin levels \< 7 g/dL
* Hemoglobin levels \< 9 g/dL in case of cardiac of respiratory condition

  2\. Population N°2
* Liver tissue quality insufficient for RNA extraction and analysis