Carbohydrate Intolerance, Diabetes, Myotonic Dystrophy 1
Conditions
Keywords
Cerebral atrophy, MRI, cognition, metabolic syndrome, tauopathy
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).
Interventions
RADIATIONMRI
Non conventional MRI (35 minutes)
OTHERneuropsychological tests
Standardized and quantified neuropsychological assessment
Sponsors
University Hospital, Lille
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to 75 Years
Healthy volunteers
No
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.).
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Atrophy difference based on two cerebral MRI volumetries | at 4 years | difference between initial MRI and 4-year MRI |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| 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 |
Countries
France
Contacts
PRINCIPAL_INVESTIGATORCéline TARD, MD
University Hospital, Lille
Outcome results
None listed