Myotonic Dystrophy – Vascular and Cognition

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Brief Title

Myotonic Dystrophy - Vascular and Cognition

Official Title

Links Between Diabetes and Cognitive Impairment in Myotonic Dystrophy Type 1 : a Non-conventional MRI Study

Brief Summary

      The cognitive disorders of adult forms of myotonic dystrophies type 1 are heterogeneous
      (impairment of executive functions, visio construction and theory of the mind, which can
      progress to the stage of dementia). Nevertheless, patients have very different degrees of
      cognitive impairment. Expansion of CTG triplets disrupts the alternative splicing of mRNAs of
      various proteins, including the insulin receptor and Tau protein. Type 2 diabetes, associated
      with peripheral insulin resistance, is therefore common in this pathology.

      Type 2 diabetes,could to explain the cognitive impairment of patients, through the
      accelerated development of brain lesions (especially tauopathy and cerebral atrophy).

Study Type


Primary Outcome

Atrophy difference based on two cerebral MRI volumetries

Secondary Outcome

 changes in scores at 4-year neuropsychological assessment of inclusion


Myotonic Dystrophy 1



Study Arms / Comparison Groups

 Group 1: MD type 1 normal
Description:  patients with type 1 myotonic dystrophy with normal carbohydrate tolerance


* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information

Recruitment Status


Estimated Enrollment


Start Date

October 14, 2021

Completion Date

January 2029

Primary Completion Date

January 2029

Eligibility Criteria

        Inclusion Criteria:

          -  Molecularly proven type 1 myotonic dystrophy

          -  Voluntary, having given informed consent

          -  Socially insured patient

          -  Patient willing to comply with all study procedures and duration (3 hours + MRI 35

          -  Patient insured under the French social security system

          -  Signed consent form

        Exclusion Criteria:

          -  Neurological history other than neuropathy: epilepsy, stroke, dementia

          -  Pregnancy or breastfeeding or woman of childbearing age without effective
             contraception (a pregnancy test will be done)

          -  Contra indication to MRI

          -  Person under guardianship or curators

          -  Persons of full age deprived of their liberties by a judicial or administrative

          -  Major comorbidity considered as a contraindication by the investigator (cancer,
             unstable angina, etc.).




18 Years - 75 Years

Accepts Healthy Volunteers



Céline TARD, MD, 0320445962, [email protected]

Location Countries


Location Countries


Administrative Informations



Organization ID


Secondary IDs


Responsible Party


Study Sponsor

University Hospital, Lille

Study Sponsor

Céline TARD, MD, Principal Investigator, University Hospital, Lille

Verification Date

February 2022