Venous Thromboembolism in Myotonic Dystrophy Type 1

• Register: ClinicalTrials.gov
• Last refreshed on: 29 November 2021
• Main ID: NCT03424460
• Date of registration: 07/12/2017
• Prospective Registration: Yes
• Primary sponsor: Assistance Publique - Hôpitaux de Paris
• Public title: Venous Thromboembolism in Myotonic Dystrophy Type 1 DM1-VTE
• Scientific title: Venous Thromboembolism in Myotonic Dystrophy Type 1
• Date of first enrolment: June 11, 2018
• Target sample size: 130
• Recruitment status: Recruiting
• URL: https://clinicaltrials.gov/show/NCT03424460
• Study type: Interventional
• Study design: Allocation: Non-Randomized. Intervention model: Parallel Assignment. Primary purpose: Other. Masking: None (Open Label).
• Phase: N/A

Countries of recruitment

France

Contacts

• Name: Denis Furling, Md, PhD
• Affiliation: Université Paris 6 Pierre et Marie Curie

• Name: Karim Wahbi, MD, PhD

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

• Name: Karim Wahbi, MD, PhD

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

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

Key inclusion & exclusion criteria

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



Age minimum: 18 Years
Age maximum: N/A
Gender: All

Health Condition(s) or Problem(s) studied

Myotonic Dystrophy 1

Intervention(s)

Genetic: RNA extraction

Biological: Monocytes and megacaryocytes culture and RNA extraction

Biological: Haemostasis tests

Primary Outcome(s)

Results of thromboelastography in the 3 arms of population n°1 [Time Frame: 24 months]

Secondary Outcome(s)

Results of thrombophilia testing in the 3 arms of population n°1 [Time Frame: 24 months]

Results of levels of plasmin anti-plasmin complexes [Time Frame: 24 months]

Results of plasma fibrinogen levels in the 3 arms of population n°1 [Time Frame: 24 months]

Results of the following fibrinolytic markers: alpha-2-antiplasmine, amidolytic activity, PAI-1 antigen, plasminogen amydolytic activity in the 3 arms of population n°1 [Time Frame: 24 months]

Results of global test of fibrinolytic activity by the method of von Kaulla [Time Frame: 24 months]

Evaluation of coagulation and/or fibrinolysis genes' expression and alternative splicing in the 3 arms of population n°1 and in the 2 arms of population n°2 [Time Frame: 30 months]

Results of prothrombin time (PT) and activated partial thromboplastin time (APPT) in the 3 arms of population n°1 [Time Frame: 30 months]

Secondary ID(s)

K170601J

2017-A01634-49

Source(s) of Monetary Support

Please refer to primary and secondary sponsors

Secondary Sponsor(s)

AFM-Téléthon (Funding)

Recherche Clinique Paris Descartes Necker Cochin Sainte Anne