Clinical Trial: An MRI Study on Muscular Diseases -Pompe Disease and Dystrophia Myotonica-

Study Status: Enrolling by invitation
Recruit Status: Enrolling by invitation
Study Type: Observational

Official Title: Function, Structure and Quality of Striated Muscles in Patients With Muscular Diseases - an MRI Study on Pompe Disease and Dystrophia Myotonica

Brief Summary:

The aim of the project is to develop new Magnetic Resonance (MR) imaging techniques for better diagnosis and monitoring of patients with muscular disorders.

Muscle quality in patients with Late Onset Pompe Disease (Acid Maltase Deficiency type 2) and in patients with Myotonica Dystrophy will be evaluated, by determining muscle strength in relation to muscle size and muscle strength in relations to fat-muscle ratio.

Detailed Summary:

The investigators focus on the rare Glycogen Storage Disease type 2 (Pompe Disease), a genetic disease characterized by gradual replacement of muscular tissue with glycogen and fat, resulting in loss of muscle mass and muscle strength. Pompe disease is of particular interest since a new drug has recently been developed and approved for this, hitherto untreatable, condition. This treatment is expensive, and it is therefore of great importance to have objective methods of examination to monitor the disease and the effects of the treatment.

Until now, monitoring has been based primarily on physical test such as the 6 min walking test and isokinetic dynamometry. These methods may not be sensitive enough to detect changes for shorter periods in slowly progressing-diseases. New MRI techniques may be useful for monitoring in myopathies.

The other disease the investigators are focusing on is Myotonic Dystrophy, because of its great similarities with Pompe Disease. As with Pompe disease, the muscular tissue slowly degenerate and fat infiltrations occur.

Hypothesis

In this study, the investigators want to test the following hypotheses:

• Intrinsic muscle strength in patients with Pompe disease and Myotonic Dystrophy is linear correlated with muscle to fat volume ratios from MR images.
• Disease grade in patients with Pompe disease and Myotonic Dystrophy corresponds to the extent of fat proliferation in the muscles of the lower extremities.
• Intrinsic muscle strength is a more specific and sensitive method to reveal the effects of enzyme replacement treatment in patients with Pompe than the
  Sponsor: University of Aarhus
  

  Current Primary Outcome:

  • Muscle strength in Newton*meter [ Time Frame: one year ]
    Muscle strength in measured by dynamometry, and the used outcome is the "peak torque".
  • Muscle to fat ratio [ Time Frame: one year ]
    Calculated from the MR-images, is a measure for muscle quality. The calculations are based on the signal intensity of the fat and water Dixon MR-images.
  • Volume ratio [ Time Frame: one year ]
    Defined from the MR-images, is a measure for muscle quality.
  
  
  

  Original Primary Outcome: Same as current
  
  

  Current Secondary Outcome:

  • 6 minutes walking test [ Time Frame: one year ]
    Only for Pompe disease participants
  • Forced Vital Function [ Time Frame: on year ]
    Only for Pompe disease participants
  
  
  

  Original Secondary Outcome: Same as current
  
  Information By: University of Aarhus
  

  Dates:
  Date Received: December 8, 2015
  Date Started: September 2015
  Date Completion: September 2016
  Last Updated: March 9, 2016
  Last Verified: November 2015