Clinical trial NCT02165358: Muscle MRI in Becker Muscular Dystrophy and in Limb-girdle Muscular Dystrophy Type 2I
Official title: Muscle MRI Study of Patients With Becker Muscular Dystrophy and Limb-girdle Muscular Dystrophy Type 2I
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Becker Muscular Dystrophy
Limb-Girdle Muscular Dystrophy Type 2I
Keywords: BMD
LGMD2I
Calf enlargement
Muscular dystrophy
MRI
Lead sponsor: Rigshospitalet, Denmark
Sponsor class: OTHER
First posted: 2014-06-17
Enrollment: 38
Sex: ALL
Minimum age (years): 18
Maximum age (years): 80
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: CASE_CONTROL
Time perspective: CROSS_SECTIONAL
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Danish patients genetically verified with either becker muscular dystrophy or limb-girdle muscular dystrophy type 2I

Brief summary: The purpose of this study is to investigate the paradoxical muscle enlargement in the calves and tongue seen in patients affected by Becker muscular dystrophy and Limb-girdle muscular dystrophy type 2I.

The enlarged calves' muscle quality will be assessed primarily on the basis of the muscle structure on MRI and based on a calculation of muscle strength per cross-sectional area.The findings will be compared with results from non-affected controls.

Additionally we want to describe the tongue muscle appearance on T1-weighted MRI.

Detailed description: The purpose of this study is to investigate the paradoxical muscle enlargement seen in patients affected by Becker muscular dystrophy and Limb-girdle muscular dystrophy type 2I.

Becker and limb-girdle muscular dystrophies are both hereditary muscular disorders. Both diseases appear clinically with shrinkage and muscle weakness of the muscles around the shoulder girdle and pelvis, while muscle hypertrophy of the calves and tongue is seen.

The quality of the enlarged calves has to the investigators knowledge not previously been described, and their hypothesis is that the normal correlation between muscle strength and muscle cross-section is absent in the calf muscles. Thus the investigators hypothesis suggests that there is no actual hypertrophy of the calf muscles, but rather a pseudohypertrofy with reduced force per cross-sectional area. With a picture of increased fat infiltration and disorganized muscle fibers.

The enlarged calves' muscle quality will be assessed primarily on the basis of the muscle structure on MRI (assessed on both T1 imaging, 3-point Dixon scans, and diffusion tension imaging), and based on a calculation of muscle strength per cross-sectional area. Isokinetic muscle dynamometry (Biodex-4) will be used to measure muscle strength. The findings will be compared with results from non-affected controls.

Additionally the investigators want to describe the tongue muscle appearance on T1-weighted MRI.

Eligibility criteria: Inclusion Criteria:

* Danish patients genetically verified with either becker muscular dystrophy or limb-girdle muscular dystrophy type 2I
* calves enlargement

Exclusion Criteria:

* Patients who have metal implants in the body, for instance surgical clips, cochlear implants, pacemaker etc.
* pregnant or breast-feeding patients
* patients who are claustrophobic
* atrophic calves

Primary outcomes:
measure: Calves muscle quality
timeFrame: 1 day
Secondary outcomes:
measure: MRI T1 scan of the tongue
timeFrame: 1 day
Other outcomes:
Locations:
city: Copenhagen
country: Denmark
facility: Neuromuscular Research Unit, Rigshospitalet
Study officials:
affiliation: Neuromuscular Research Unit, Rigshospitalet, Copenhagen
name: Nicoline Løkken, Bsc
role: PRINCIPAL_INVESTIGATOR
References: