Myotonic Dystrophy - Vascular and Cognition (DM-VASCOG)

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

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 Overview

• Status: Active, not recruiting
• Conditions: Diabetes; Myotonic Dystrophy 1; Carbohydrate Intolerance
• Intervention / Treatment: Radiation: MRI; Other: neuropsychological tests

• Study Type: Observational
• Enrollment (Actual): 85

Contacts and Locations

Study Locations

• France
  • Lille, France, 59037
    • Hopital Roger Salengro, CHU Lille

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 14 years to 71 years (Adult, Older Adult)
• Accepts Healthy Volunteers: No

• Sampling Method: Probability Sample

Study Population

Patients with DM type 1 monitored annually by the Neuromuscular Disease Reference Centre

Description

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.).

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Prospective

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Group 1: MD type 1 normal; patients with type 1 myotonic dystrophy with normal carbohydrate tolerance	Radiation: MRI; Non conventional MRI (35 minutes); Other: neuropsychological tests; 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.	Radiation: MRI; Non conventional MRI (35 minutes); Other: neuropsychological tests; Standardized and quantified neuropsychological assessment

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Atrophy difference based on two cerebral MRI volumetries	difference between initial MRI and 4-year MRI	at 4 years

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
changes in scores at 4-year neuropsychological assessment of inclusion	difference between initial assessment and 4-year assessment	At baseline at 4 years
changes in tau biomarkers in blood at 4 years of inclusion	difference between initial and 4-year dosing	At baseline at 4 years
changes in amyloid biomarkers in blood at 4 years of inclusion	difference between initial and 4-year dosing	At baseline at 4 years

Collaborators and Investigators

• Sponsor: University Hospital, Lille
• Investigators: Principal Investigator: Céline TARD, MD, University Hospital, Lille

Study record dates

Study Major Dates

• Study Start (Actual): October 14, 2021
• Primary Completion (Actual): October 13, 2024
• Study Completion (Estimated): January 1, 2029

Study Registration Dates

• First Submitted: November 23, 2020
• First Submitted That Met QC Criteria: November 30, 2020
• First Posted (Actual): December 7, 2020

Study Record Updates

• Last Update Posted (Actual): May 22, 2026
• Last Update Submitted That Met QC Criteria: May 20, 2026
• Last Verified: May 1, 2026

More Information

Terms related to this study

• Keywords: MRI; cognition; metabolic syndrome; tauopathy; Cerebral atrophy
• Additional Relevant MeSH Terms: Endocrine System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Muscular Diseases; Neuromuscular Diseases; Genetic Diseases, Inborn; Metabolic Diseases; Glucose Metabolism Disorders; Neurodegenerative Diseases; Insulin Resistance; Hyperinsulinism; Heredodegenerative Disorders, Nervous System; Muscular Disorders, Atrophic; Muscular Dystrophies; Myotonic Disorders; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Metabolic Syndrome; Diabetes Mellitus; Myotonic Dystrophy; Tauopathies; Glucose-Galactose Malabsorption; Behavioral Disciplines and Activities; Psychological Tests; Neuropsychological Tests
• Other Study ID Numbers: 2018_31; 2019-A00086-51 (Other Identifier: ID-RCB number, ANSM)

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No