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

NCT ID: NCT02729597

Last Updated: 2016-04-06

Basic Information

• Recruitment Status: COMPLETED
• Total Enrollment: 49 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2007-05-31
• Study Completion Date: 2015-08-31

Brief Summary

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.

Detailed 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.

Conditions

Myotonic Dystrophy 1; Myotonic Dystrophy 2

Study Design

• Observational Model Type: COHORT
• Study Time Perspective: PROSPECTIVE

Study Groups

Myotonic dystrophy type 1 patients

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

medical history

Intervention Type: OTHER

The complete medical history (including cardiovascular risk factors and medication) will be assessed at baseline and follow-up.

neurological clinical examination

Intervention Type: OTHER

Neurological examination will be performed at baseline and follow-up.

neuropsychological testing

Intervention Type: OTHER

Neuropsychological testing using a 13 item test battery will be performed at baseline and follow-up.

brain MRI

Intervention Type: OTHER

Brain MRI ( 3.0 T) will be performed using the same hard- and software at baseline and follow-up.

Myotonic dystrophy type 2 patients

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

medical history

Intervention Type: OTHER

The complete medical history (including cardiovascular risk factors and medication) will be assessed at baseline and follow-up.

neurological clinical examination

Intervention Type: OTHER

Neurological examination will be performed at baseline and follow-up.

neuropsychological testing

Intervention Type: OTHER

Neuropsychological testing using a 13 item test battery will be performed at baseline and follow-up.

brain MRI

Intervention Type: OTHER

Brain MRI ( 3.0 T) will be performed using the same hard- and software at baseline and follow-up.

Controls

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

medical history

Intervention Type: OTHER

The complete medical history (including cardiovascular risk factors and medication) will be assessed at baseline and follow-up.

neurological clinical examination

Intervention Type: OTHER

Neurological examination will be performed at baseline and follow-up.

neuropsychological testing

Intervention Type: OTHER

Neuropsychological testing using a 13 item test battery will be performed at baseline and follow-up.

brain MRI

Intervention Type: OTHER

Brain MRI ( 3.0 T) will be performed using the same hard- and software at baseline and follow-up.

Interventions

medical history

The complete medical history (including cardiovascular risk factors and medication) will be assessed at baseline and follow-up.

Intervention Type: OTHER

neurological clinical examination

Neurological examination will be performed at baseline and follow-up.

Intervention Type: OTHER

neuropsychological testing

Neuropsychological testing using a 13 item test battery will be performed at baseline and follow-up.

Intervention Type: OTHER

brain MRI

Brain MRI ( 3.0 T) will be performed using the same hard- and software at baseline and follow-up.

Intervention Type: OTHER

Eligibility Criteria

Inclusion Criteria

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

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

Exclusion Criteria

• 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

• Minimum Eligible Age: 18 Years
• Maximum Eligible Age: 70 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: Yes

Sponsors

Forschungszentrum Juelich

OTHER

Sponsor Role: collaborator

Life and Brain Center Bonn

UNKNOWN

Sponsor Role: collaborator

The Marigold Foundation

UNKNOWN

Sponsor Role: collaborator

University Hospital, Bonn

OTHER

Sponsor Role: lead

Responsible Party

Cornelia Kornblum

Prof. Dr.

Responsibility Role: PRINCIPAL_INVESTIGATOR

Principal Investigators

Cornelia Kornblum, Prof. Dr.

Role: STUDY_CHAIR

Department of Neurology, University Hospital of Bonn, Bonn, Germany

Bernd Weber, Prof. Dr.

Role: STUDY_CHAIR

Life and Brain Center, Department of NeuroCognition-Imaging, Bonn, Germany

Other Identifiers

DM-1-2

Identifier Type: -

Identifier Source: org_study_id