Myotonic Dystrophy - Vascular and Cognition

NCT ID: NCT04656210

Last Updated: 2025-05-23

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

ACTIVE_NOT_RECRUITING

Total Enrollment

85 participants

Study Classification

OBSERVATIONAL

Study Start Date

2021-10-14

Study Completion Date

2029-01-31

Brief Summary

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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).

Detailed Description

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Conditions

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Myotonic Dystrophy 1 Diabetes Carbohydrate Intolerance

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

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Group 1: MD type 1 normal

patients with type 1 myotonic dystrophy with normal carbohydrate tolerance

MRI

Intervention Type RADIATION

Non conventional MRI (35 minutes)

neuropsychological tests

Intervention Type OTHER

Standardized and quantified neuropsychological assessment

Group 2: MD type 1 Diabetes

patients with type 1 myotonic dystrophy with diabetes. Patients with carbohydrate intolerance ("pre-diabetes") who became diabetic at 3 years of age will be divided into Group 2.

MRI

Intervention Type RADIATION

Non conventional MRI (35 minutes)

neuropsychological tests

Intervention Type OTHER

Standardized and quantified neuropsychological assessment

Interventions

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MRI

Non conventional MRI (35 minutes)

Intervention Type RADIATION

neuropsychological tests

Standardized and quantified neuropsychological assessment

Intervention Type OTHER

Eligibility Criteria

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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 minutes)
* 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 decision
* Major comorbidity considered as a contraindication by the investigator (cancer, unstable angina, etc.).
Minimum Eligible Age

18 Years

Maximum Eligible Age

75 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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University Hospital, Lille

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Céline TARD, MD

Role: PRINCIPAL_INVESTIGATOR

University Hospital, Lille

Locations

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Hopital Roger Salengro, CHU Lille

Lille, , France

Site Status

Countries

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France

Other Identifiers

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2019-A00086-51

Identifier Type: OTHER

Identifier Source: secondary_id

2018_31

Identifier Type: -

Identifier Source: org_study_id

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