Myotonic Dystrophy - Vascular and Cognition

Study Overview
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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).

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

Conditions
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Myotonic Dystrophy 1, Diabetes, Carbohydrate Intolerance

Intervention / Treatment
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* Radiation: MRI
* Other: neuropsychological tests


Participation Criteria
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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.).

Ages Eligible for Study
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Minimum Age: 18 Years
Maximum Age: 75 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Group 1: MD type 1 normal<br>patients with type 1 myotonic dystrophy with normal carbohydrate tolerance | Radiation: MRI<br>* Non conventional MRI (35 minutes)<br>Other: neuropsychological tests<br>* Standardized and quantified neuropsychological assessment<br>|
| Group 2: MD type 1 Diabetes<br>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<br>* Non conventional MRI (35 minutes)<br>Other: neuropsychological tests<br>* Standardized and quantified neuropsychological assessment<br>|

What is the study measuring?
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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 | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Cerebral atrophy, MRI, cognition, metabolic syndrome, tauopathy