Myotonic Dystrophy - Vascular and Cognition

N/AActive Not RecruitingNCT04656210

University Hospital, Lille85 enrolled

Overview

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

OBSERVATIONAL

Enrollment

Conditions

Myotonic Dystrophy 1 Diabetes Carbohydrate Intolerance

Interventions

MRI

Eligibility

Sex: ALLMin age: 18 YearsMax age: 75 Years

Medical Language ↔ Plain English

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.).

Outcomes

Primary Outcomes

Atrophy difference based on two cerebral MRI volumetries

difference between initial MRI and 4-year MRI

Time frame: at 4 years

Secondary Outcomes

changes in scores at 4-year neuropsychological assessment of inclusion

difference between initial assessment and 4-year assessment

Time frame: At baseline at 4 years

changes in tau biomarkers in blood at 4 years of inclusion

difference between initial and 4-year dosing

Time frame: At baseline at 4 years

changes in amyloid biomarkers in blood at 4 years of inclusion

difference between initial and 4-year dosing

Time frame: At baseline at 4 years

Myotonic Dystrophy - Vascular and Cognition

Overview

Conditions

Interventions

Eligibility

Locations (1)

Outcomes

Primary Outcomes

Secondary Outcomes