NCT02729597

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

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 49 (actual)
• Sponsor: University Hospital, Bonn · Academic / Other
• Sex: All
• Age: 18 Years – 70 Years
• Healthy volunteers: Accepted

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

Interventions

Type	Name	Description
OTHER	medical history	The complete medical history (including cardiovascular risk factors and medication) will be assessed at baseline and follow-up.
OTHER	neurological clinical examination	Neurological examination will be performed at baseline and follow-up.
OTHER	neuropsychological testing	Neuropsychological testing using a 13 item test battery will be performed at baseline and follow-up.
OTHER	brain MRI	Brain MRI ( 3.0 T) will be performed using the same hard- and software at baseline and follow-up.

Timeline

• Start date: 2007-05-01
• Primary completion: 2014-12-01
• Completion: 2015-08-01
• First posted: 2016-04-06
• Last updated: 2016-04-06