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

NCT02729597 | Completed

• 1 other identifier: DM-1-2
• Study Type: observational
• Target: 49
• Locations: 0 countries
• Sites: N/A

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.

Conditions

Myotonic Dystrophy 1; Myotonic Dystrophy 2

Keywords

neuromuscular disorders; MRI; white matter; brain; myotonic dystrophy

Outcome Measures

Primary Outcomes (3)

• Change in diffusivity indices as assessed by brain MRI with diffusion tensor imaging (DTI) sequences

  First analysis at baseline and after 5 years at follow-up

• Gray matter changes assessed by magnetic resonance imaging (MRI)-voxel-based morphometry (VBM)

  First analysis at baseline and after 5 years at follow-up

• Quantification of white matter lesions using age-related white matter changes (ARWMC) rating scale

  First analysis at baseline and after 5 years at follow-up

Secondary Outcomes (20)

• MIRS (Muscular impairment rating scale)

  First analysis at baseline and after 5 years at follow-up

• Motor performance (Purdue Pegboard, bimanual)

  First analysis at baseline and after 5 years at follow-up

• Beck Depression Inventory (BDI)

  First analysis at baseline and after 5 years at follow-up

• Boston Naming Test

  First analysis at baseline and after 5 years at follow-up

• Verbal memory recognition task, a subtest of a computerised neuropsychological screening test battery, named NeuroCogFX (Fliessbach et al., 2006).

  First analysis at baseline and after 5 years at follow-up

Study Arms (3)

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

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

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

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

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

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

Interventions

medical history OTHER

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

Controls; Myotonic dystrophy type 1 patients; Myotonic dystrophy type 2 patients

neurological clinical examination OTHER

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

Controls; Myotonic dystrophy type 1 patients; Myotonic dystrophy type 2 patients

neuropsychological testing OTHER

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

Controls; Myotonic dystrophy type 1 patients; Myotonic dystrophy type 2 patients

brain MRI OTHER

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

Controls; Myotonic dystrophy type 1 patients; Myotonic dystrophy type 2 patients

Eligibility Criteria

• Age: 18 Years - 70 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients with genetically proven myotonic dystrophy type 1 and myotonic dystrophy type 2 and healthy controls

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• University Hospital, Bonn: lead
• Forschungszentrum Juelich: collaborator
• Life and Brain Center Bonn: collaborator
• The Marigold Foundation: collaborator

MeSH Terms

Conditions

Myotonic Dystrophy; Neuromuscular Diseases

Interventions

Health Records, Personal; 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; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Intervention Hierarchy (Ancestors)

Medical Records; Records; Data Collection; Epidemiologic Methods; Investigative Techniques; Psychological Tests; Behavioral Disciplines and Activities

Study Officials

• Cornelia Kornblum, Prof. Dr.

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

  STUDY CHAIR

• Bernd Weber, Prof. Dr.

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

  STUDY CHAIR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Prof. Dr.

Study Record Dates

• First Submitted: March 23, 2016
• First Posted: April 6, 2016
• Study Start: May 1, 2007
• Primary Completion: December 1, 2014
• Study Completion: August 1, 2015
• Last Updated: April 6, 2016

Record last verified: 2016-04