Myotonic Dystrophy - Vascular and Cognition

NCT04656210 | Active Not Recruiting

• 2 other identifiers: 2018_312019-A00086-51
• Study Type: observational
• Target: 85
• Locations: 1 country
• Sites: 1

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).

Conditions

Myotonic Dystrophy 1; Diabetes; Carbohydrate Intolerance

Keywords

Cerebral atrophy; MRI; cognition; metabolic syndrome; tauopathy

Outcome Measures

Primary Outcomes (1)

• Atrophy difference based on two cerebral MRI volumetries

  difference between initial MRI and 4-year MRI

  at 4 years

Secondary Outcomes (3)

• changes in scores at 4-year neuropsychological assessment of inclusion

  At baseline at 4 years

• changes in tau biomarkers in blood at 4 years of inclusion

  At baseline at 4 years

• changes in amyloid biomarkers in blood at 4 years of inclusion

  At baseline at 4 years

Study Arms (2)

Group 1: MD type 1 normal

patients with type 1 myotonic dystrophy with normal carbohydrate tolerance

Radiation: MRI; Other: neuropsychological tests

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.

Radiation: MRI; Other: neuropsychological tests

Interventions

MRI RADIATION

Non conventional MRI (35 minutes)

Group 1: MD type 1 normal; Group 2: MD type 1 Diabetes

neuropsychological tests OTHER

Standardized and quantified neuropsychological assessment

Group 1: MD type 1 normal; Group 2: MD type 1 Diabetes

Eligibility Criteria

• Age: 18 Years - 75 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

Patients with DM type 1 monitored annually by the Neuromuscular Disease Reference Centre

You may qualify if:

• 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

You may not qualify if:

• 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.).

Sponsors & Collaborators

• University Hospital, Lille: lead

Study Sites (1)

Hopital Roger Salengro, CHU Lille

Lille, 59037, France

Location

MeSH Terms

Conditions

Myotonic Dystrophy; Diabetes Mellitus; Glucose-Galactose Malabsorption; Metabolic Syndrome; Tauopathies

Interventions

Neuropsychological Tests

Condition Hierarchy (Ancestors)

Muscular Dystrophies; Muscular Disorders, Atrophic; Muscular Diseases; Musculoskeletal Diseases; Myotonic Disorders; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Nervous System Diseases; Neuromuscular Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Glucose Metabolism Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases; Endocrine System Diseases; Insulin Resistance; Hyperinsulinism

Intervention Hierarchy (Ancestors)

Psychological Tests; Behavioral Disciplines and Activities

Study Officials

• Céline TARD, MD

  University Hospital, Lille

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: November 23, 2020
• First Posted: December 7, 2020
• Study Start: October 14, 2021
• Primary Completion: October 13, 2024
• Study Completion (Estimated): January 1, 2029
• Last Updated: May 23, 2025

Record last verified: 2025-05

Locations

FR (1)