An interventional study of Haemostasis tests and Monocytes and megacaryocytes culture and RNA extraction in Myotonic Dystrophy 1, sponsored by Assistance Publique - Hôpitaux de Paris. Completed at 1 site in France. Open to participants aged 18 Years and older, including healthy volunteers. Per ClinicalTrials.gov, last updated 2025-09-12.
Sponsored by Assistance Publique - Hôpitaux de Paris · Not applicable, Interventional, and Other
Among 30 studies in Myotonic Dystrophy with a site in France — 10 open to participants now, 13 under way, 4 of them phase 3. Myotonic Dystrophy · France.
Among the 30 studies in Myotonic Dystrophy with a site in France, this one is the 6th largest by enrollment of the 20 interventional ones that give a count, is the only one that started in 2018, is one of 8 with no phase, and was the 9th registered.
126 studies on the registry are indexed under Myotonic Dystrophy; 50 are open to participants now.
Browse Myotonic Dystrophy studies →10 of the 30 studies in Myotonic Dystrophy with a site in France are open now. Recruiting first, the newest first:
Avidity Biosciences, Inc. · Sites in France, Australia, Belgium and 7 more countries
Dyne Therapeutics · Sites in France, United States, Australia and 9 more countries
Institut de Myologie, France · Sites in France
University Hospital, Clermont-Ferrand · Sites in France
Assistance Publique - Hôpitaux de Paris · Sites in France
A study can be open while its sites in France have not opened yet or have stopped. Only those recruiting at a site in France →
Of the 35 Myotonic Dystrophy studies recruiting now, 15 (43%) set no upper age limit and 18 (51%) stop at 75 or younger; 22 take children under 18; 8 take healthy volunteers.
This study: 18 Years and older · all sexes · healthy volunteers too.
The full table on the hub →This tab as a report to print or save as PDF → With an account.
30 studies; the count open now beside each. This study's row is marked.
A study in two phases is counted once above. Listed by phase, each with its combined phases: Phase 1 4 · Phase 2 5 · Phase 3 8
First in 2004; this study’s year is marked. 1 started in 2018.
This study's enrollment of 130 is above the median of 40 across 67 interventional studies indexed under Myotonic Dystrophy.
Median enrollment 76 across the 20 interventional studies, 79 across the 10 observational. Of the 15 that completed or were terminated, 0 (0%) have results posted.
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11 of 30 have an industry lead sponsor. The 10 most frequent:
Assistance Publique - Hôpitaux de Paris is the lead sponsor of 3,592 studies on the registry; 1,033 are open to participants now.
Assistance Publique - Hôpitaux de Paris has 4 studies filed under Myotonic Dystrophy — fewer than ten, so there is no comparison to draw.
6 of the studies in Myotonic Dystrophy with a site in France that are under way reach primary completion within a year, 1 of them phase 3. Phase 3 first, then by date:
| Study | Primary completion |
|---|---|
| NCT05532813Phase 3Assistance Publique - Hôpitaux de ParisEvaluation of the Efficacy and Safety of Metformin in the Myotonic Dystrophy Type 1 (Steinert's Disease) | 2026-11 |
| NCT06138743Sarepta Therapeutics, Inc.Study of SRP-1003 in Participants With Type 1 Myotonic Dystrophy | 2026-12-31 |
| NCT07321977Institut de Myologie, FranceAssessment of a Portable Digital Device for Quantified Analysis of Markerless Walking in Volunteers With Neuromuscular Diseases or Asymptomatic Volunteers | 2026-12-31 |
| NCT06185764Vertex Pharmaceuticals IncorporatedA Phase 1/2 Study of VX-670 in Adult Participants With Myotonic Dystrophy 1 (DM1) | 2027-02-02 |
| NCT06147414Assistance Publique - Hôpitaux de ParisDevelopment of Non-Invasive Prenatal Diagnosis for Single Gene Disorders | 2027-05 |
Among the 30 studies in Myotonic Dystrophy with a site in France, from their registry updates:
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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.
Investigators have identified in the cohort of 1084 patients presenting myotonic dystrophy type 1 (DM1) a 10% prevalence of venous thromboembolism (VTE) and a 7‰ annual incidence, which is 10-fold higher than in the general population and 3-fold compared to patients with other myopathies.
Patients' clinical presentations were very similar to those observed in patients with severe hypercoagulable states caused by mutations in genes encoding factors involved in coagulation, fibrinolysis or their regulation and represented a frequent cause of death.
To Investigator's knowledge, this association between VTE and DM1 has never been reported to date and no competing project has been initiated on this topic by any other team.
Investigators hypothesize that VTE in DM1 may be related to a hypercoagulable state resulting from an imbalance between coagulation processes and fibrinolysis properties. Because the expression of pathogenic CTG repeats in DM1 leads to a RNA gain-of-function mechanism, Investigators propose these abnormalities may be the consequence of alternative splicing misregulation and/or abnormal gene expression of coagulation, fibrinolysis factors or other factors involved in their regulation.
Investigators applied a candidate gene strategy to screen splicing profiles of 33 genes coding for haemostasis factors in a DM1 context. Using expression large-scale datasets of DM1 tissue samples from skeletal muscle and heart, Investigators identified splicing defects in 4 genes involved in haemostasis, in particular 3 involved in the fibrinolytic system: PLAT, PLAU and SERPINE1. These preliminary analyses were however not performed on liver samples whereas genes coding for haemostasis factors are synthesized and mainly expressed in liver. Analysis of liver and monocytes/megacaryotes RNA samples appears to be an essential step.
The objectives are to (i) study haemostatic properties of a cohort of patients with DM1 with and without personal history of VTE, in order to determine whether a hypercoagulable state may be associated with DM1 and whether it may be correlated to the occurrence of VTE, and (ii) to perform a global transcriptomic approach using massive parallel sequencing (RNAseq) on liver and monocytes/megacaryotes. RNA samples obtained from DM1 patients will help identify candidate genes with altered expression or alternative splicing misregulation that may underlie VTE in DM1.
The study will include two complementary parts in DM1 patients with and without personal history of VTE and healthy volunteers: haemostasis tests, and transcriptomic analysis on RNA samples isolated from liver biopsies and blood monocytes/megacaryocytes samples.Three teams will be involved in the study: Team 1 (clinical study), Team 2 (haematology) and Team 3 (transcriptomic analysis).
Haemostasis tests will be performed by Team 1 and analysed by Team 2 in (i) 100 patients prospectively enrolled in Investigator's Institution by Team 1, aged >18 years, with genetically proven DM1, after providing written informed consent, without any current antithrombotic treatment, including 80 without and 20 with personal history of VTE and (ii) 30 healthy volunteers matched on age and sex. RNAseq will be performed on (i) liver tissue issued from 3 patients with DM1 and 6 controls and (ii) monocytes/megacaryocytes isolated from the blood of 15 patients with DM1 (7 with and 8 without VTE) and 15 controls prospectively enrolled in the study. Inclusion and exclusion criteria will be similar to those of patients included in the study of haemostasis properties.
Liver tissues are already available in a tissue bank. Blood will be prospectively collected in DM1 patients and controls by Team 1. Monocytes and megacaryocytes will be isolated and cultured by Team 2.
Team 3 will extract total RNA from liver samples, monocytes and megacaryocytes to the Centre National de Génotypage for RNA sequencing and perform the analysis of the data and the validation of the newly identified candidates.
The estimated study duration is 72 months, including (i) 66 months for patient inclusions, coagulation testsand monocytes/megacaryocytes isolations, and (ii) 6 months for fibrinolysis tests, RNA extraction and sequencing, data analysis, validation.
Investigators believe the study will have important implications for the clinical management of patients with DM1. Specific strategies will be proposed for the prevention of VTE with potentially larger indications for prophylactic anticoagulant treatments and longer duration after a first episode of VTE.
Regarding the high mortality associated with VTE and the identification in the registry of pulmonary embolism as a frequent cause of death, sudden and non-sudden, in DM1 patients, the modification of these treatment strategies may be associated with an important clinical benefit.The identification of haemostasis abnormalities by coagulation and fibrinolysis tests could be useful for risk stratification in patients with DM1 and could allow targeted treatments.
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Population N°1
Population N°2
Exclusion Criteria:
Patient opposed to data collection and analysis
1. Population N°1
Hemoglobin levels \< 9 g/dL in case of cardiac of respiratory condition
2. Population N°2
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
The protein in red blood cells that carries oxygen. A low level is anaemia, which can cause tiredness and breathlessness. Measured in g/dL or g/L (9 g/dL is 90 g/L).
Hemoglobin (Hb)
The protein in red blood cells that carries oxygen. A low level is anaemia, which can cause tiredness and breathlessness. Measured in g/dL or g/L (9 g/dL is 90 g/L).
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Myotonic dystrophy type 1 patients with a history of venous thromboembolism (pulmonary embolism and/or deep vein thrombosis)
Biological: Haemostasis tests · Biological: Monocytes and megacaryocytes culture and RNA extraction
Myotonic dystrophy type 1 patients without a history of venous thromboembolism
Biological: Haemostasis tests · Biological: Monocytes and megacaryocytes culture and RNA extraction
Healthy volunteers without any medical history or treatment
Biological: Haemostasis tests · Biological: Monocytes and megacaryocytes culture and RNA extraction
Liver samples of patients with myotonic dystrophy type 1
Genetic: RNA extraction
Liver samples from patients without any medical history
Genetic: RNA extraction
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
Results of thromboelastography in the 3 arms of population n°1
Results given in thromboelastography traces
Time frame: 24 months
Results of prothrombin time (PT) and activated partial thromboplastin time (APPT) in the 3 arms of population n°1
Results given in seconds
Time frame: 30 months
Results of plasma fibrinogen levels in the 3 arms of population n°1
Results given in grams per liter
Time frame: 24 months
Results of thrombophilia testing in the 3 arms of population n°1
Testing for: * Antithrombin III mutation * C protein mutation * S protein mutaiton * Activated C protein resistance mutation * Factor II G20210 mutation * Lupus anticoagulant. Results given in: presence or absence (yes or no)
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
Results given in International Units per milliliters
Time frame: 24 months
Results of levels of plasmin anti-plasmin complexes
Results given in picograms per milliliters
Time frame: 24 months
Results of global test of fibrinolytic activity by the method of von Kaulla
Results given in hours
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
Bioanalysis of the patients' transcriptomes after global RNA sequencing, focusing on expression or alternative splicing misregulation of coagulation and/or fibrinolysis genes. Results given in : gene name(s) and description
Time frame: 30 months
Plan to share: Undecided
Ran from Jun 2018 to primary completion in Mar 2023, 57 months.
Of 25 interventional studies with no phase under Myotonic Dystrophy, half reached primary completion within 23 months of starting (the median), counting those still running; a quarter within 12 and three quarters within 57. This study's 57 months is above that.
How these figures are worked out, and which studies are left out of them.
This study is completed, as verified in Sep 2025. You cannot join it, but the record below documents what was studied.
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