Tracking the Brain in Myotonic Dystrophies: a 5-year Longitudinal Follow-up Study

University Hospital Bonn (UKB)

Status: Completed

Conditions: Myotonic Dystrophy 1; Myotonic Dystrophy 2

Treatments: Other: neurological clinical examination; Other: neuropsychological testing; Other: medical history; Other: brain MRI

Study type: Observational

Funder types: Other

Identifiers

NCT02729597

DM-1-2

Details and patient eligibility

About

The natural history of brain affection in myotonic dystrophy types 1 and 2 is still unknown. The investigators designed a 5-year longitudinal neuropsychological and neuroimaging follow-up study to address this issue. Myotonic dystrophy type 1, myotonic dystrophy type 2 patients, and healthy controls were enrolled. All participants undergo clinical-neurological examinations, neuropsychological analyses according to a 13-item neuropsychological test battery, and 3T-brain MRI including voxel-based morphometry and diffusion tensor imaging at baseline and at follow-up using identical examination protocols.

Full description

It is unknown whether brain affection in myotonic dystrophy types 1 and 2 is due to neurodevelopmental defects, neurodegeneration, or both. An exact definition of the nature and dynamic of brain affection is of urgent need for the identification of clinical trial outcome parameters and the design of therapy compounds. The investigators planned a 5-year longitudinal study to examine the natural history of functional and structural brain affection. Myotonic dystrophy type 1, myotonic dystrophy type 2 patients, and healthy controls were enrolled. All participants undergo clinical-neurological examinations, neuropsychological analyses according to a 13-item neuropsychological test battery, and 3T-brain MRI at baseline and at follow-up using identical examination protocols. The intended time span between baseline and follow-up examinations is 5 years minimum. To investigate gray and white matter affection, voxel-based morphometry and diffusion tensor imaging are performed, and data are statistically analyzed including (i) group comparisons between patients and controls at baseline and follow-up, and (ii) group comparisons using difference maps to focus on isolated disease-related effects over time.

Enrollment: 49 patients

Sex: All

Ages: 18 to 70 years old

Volunteers: Accepts Healthy Volunteers

Inclusion and exclusion criteria

Inclusion criteria for healthy controls:

• written informed consent
• normal neurological examination without any acute or former neurological or severe psychiatric disease, no medical history of traumatic brain injury

Inclusion criteria for patients:

• written informed consent
• diagnosis confirmed by genetic testing
• no other neurological or severe psychiatric disease, no medical history of traumatic brain injury

Exclusion criteria for healthy controls and patients:

• use of psychoactive substances including alcohol (except nicotine), formerly or currently; treatment with modafinil
• severe psychiatric disorders, serious physical illnesses, particularly cardiovascular diseases, formerly or currently
• non-removable ferromagnetic metallic implants, sensors, stimulators, prostheses, pacemaker, large tattoos
• claustrophobia
• age under 18 years

Trial design

49 participants in 3 patient groups

Myotonic dystrophy type 1 patients

Description:

Patients with myotonic dystrophy type 1 (diagnosis confirmed by genetic testing) who meet all inclusion and exclusion criteria for patients. To be assessed at baseline and follow-up: medical history, neurological clinical examination, neuropsychological testing, brain MRI

Treatment:

Other: brain MRI

Other: neuropsychological testing

Other: medical history

Other: neurological clinical examination

Myotonic dystrophy type 2 patients

Description:

Patients with myotonic dystrophy type 2 (diagnosis confirmed by genetic testing) who meet all inclusion and exclusion criteria for patients. To be assessed at baseline and follow-up: medical history, neurological clinical examination, neuropsychological testing, brain MRI

Treatment:

Other: brain MRI

Other: neuropsychological testing

Other: medical history

Other: neurological clinical examination

Controls

Description:

Healthy control subjects who meet all inclusion and exclusion criteria for healthy controls. To be assessed at baseline and follow-up: medical history, neurological clinical examination, neuropsychological testing, brain MRI

Treatment:

Other: brain MRI

Other: neuropsychological testing

Other: medical history

Other: neurological clinical examination