Myotonic Dystrophy - Vascular and Cognition

Active, not recruiting

• Conditions: Carbohydrate Intolerance; Myotonic Dystrophy 1; Diabetes
• Interventions: Radiation: MRI; Other: neuropsychological tests

• Registration Number: NCT04656210
• Lead Sponsor: University Hospital, Lille

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).

Detailed Description

Not available

Study Timeline

• Study First Submitted: 2020-11-23
• Study First Submitted QC: 2020-11-30
• Study First Posted: 2020-12-07
• Study Start: 2021-10-14
• Primary Completion: 2024-10-13
• Status Verified: 2025-05
• Last Update Submitted: 2025-05-19
• Last Update Posted: 2025-05-23
• Study Completion: 2029-01

Recruitment & Eligibility

• Status: ACTIVE_NOT_RECRUITING
• Sex: All
• Target Recruitment: 85

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 & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Group 2: MD type 1 Diabetes	MRI	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.
Group 2: MD type 1 Diabetes	neuropsychological tests	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.
Group 1: MD type 1 normal	MRI	patients with type 1 myotonic dystrophy with normal carbohydrate tolerance
Group 1: MD type 1 normal	neuropsychological tests	patients with type 1 myotonic dystrophy with normal carbohydrate tolerance

Primary Outcome Measures

Name	Time	Method
Atrophy difference based on two cerebral MRI volumetries	at 4 years	difference between initial MRI and 4-year MRI

Secondary Outcome Measures

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

Trial Locations

Locations (1)

Hopital Roger Salengro, CHU Lille; 🇫🇷 Lille, France