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| ID | Type | Description | Link |
|---|---|---|---|
| 2019-A00086-51 | Other Identifier | ID-RCB number, ANSM |
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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).
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Group 1: MD type 1 normal | patients with type 1 myotonic dystrophy with normal carbohydrate tolerance |
| |
| Group 2: MD type 1 Diabetes | 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. |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| MRI | Radiation | Non conventional MRI (35 minutes) |
|
| Measure | Description | Time Frame |
|---|---|---|
| Atrophy difference based on two cerebral MRI volumetries | difference between initial MRI and 4-year MRI | at 4 years |
| 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 |
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Inclusion Criteria:
Exclusion Criteria:
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Patients with DM type 1 monitored annually by the Neuromuscular Disease Reference Centre
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| Name | Affiliation | Role |
|---|---|---|
| Céline TARD, MD | University Hospital, Lille | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Hopital Roger Salengro, CHU Lille | Lille | 59037 | France |
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| ID | Term |
|---|---|
| D009223 | Myotonic Dystrophy |
| D003920 | Diabetes Mellitus |
| C562602 | Glucose-Galactose Malabsorption |
| D024821 | Metabolic Syndrome |
| D024801 | Tauopathies |
| ID | Term |
|---|---|
| D009136 | Muscular Dystrophies |
| D020966 | Muscular Disorders, Atrophic |
| D009135 | Muscular Diseases |
| D009140 | Musculoskeletal Diseases |
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| ID | Term |
|---|---|
| D009483 | Neuropsychological Tests |
| ID | Term |
|---|---|
| D011581 | Psychological Tests |
| D004191 | Behavioral Disciplines and Activities |
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| neuropsychological tests | Other | Standardized and quantified neuropsychological assessment |
|
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 |
| D020967 | Myotonic Disorders |
| D020271 | Heredodegenerative Disorders, Nervous System |
| D019636 | Neurodegenerative Diseases |
| D009422 | Nervous System Diseases |
| D009468 | Neuromuscular Diseases |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D044882 | Glucose Metabolism Disorders |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
| D004700 | Endocrine System Diseases |
| D007333 | Insulin Resistance |
| D006946 | Hyperinsulinism |