Myotonic Dystrophy - Vascular and Cognition (DM-VASCOG)

University Hospital, Lille

Status: Active, not recruiting

Conditions: Carbohydrate Intolerance; Diabetes; Myotonic Dystrophy 1

Treatments: Other: neuropsychological tests; Radiation: MRI

Study type: Observational

Funder types: Other

Identifiers

NCT04656210

2019-A00086-51 (Other Identifier)

2018_31

Details and patient eligibility

About

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).

Enrollment: 85 patients

Sex: All

Ages: 18 to 75 years old

Volunteers: No Healthy Volunteers

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.).

Trial design

85 participants in 2 patient groups

Group 1: MD type 1 normal

Description:

patients with type 1 myotonic dystrophy with normal carbohydrate tolerance

Treatment:

Radiation: MRI

Other: neuropsychological tests

Group 2: MD type 1 Diabetes

Description:

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.

Treatment:

Radiation: MRI

Other: neuropsychological tests