Limb Girdle Muscular Dystrophy, Neuromuscular Diseases
Conditions
Keywords
MRI, Neuromuscular disorder, Outcome measure, Progression
Brief summary
The aim of the study is to investigate progression in muscle affection in patients with pathogenic variants in the anoctamin 5 gene to: 1. investigate possible progression of disease over time 2. investigate good and reliable outcome measures
Detailed description
Muscles of patients with pathogenic variants in the anoctamin 5 gene will over time be infiltrated with fat. This is especially visible on MRI and can be seen even before any symptoms appear. MRI is thus used increasingly to investigate muscle affection in neuromuscular disorders. Together with functional measurements it is possible to describe how patients are affected clinically and subclinically. There are still many things that need covering - rate of progression is undertermined and good outcome measures are still needed for future clinical trials. Muscles of the whole body in patients with neuromuscular disorders will be investigated 3 times through a 3 year follow-up study. The aim of the study is to investigate progression in muscle affection in patients with pathogenic variants in the anoctamin 5 gene to: 1. investigate possible progression of disease over time 2. investigate good and reliable outcome measures
Interventions
OTHERNo intervention - pure observational study
No intervention
Sponsors
Rigshospitalet, Denmark
Funding: Toyota Foundation
The Hede Nielsen Family Foundation
Funding: Grosserer L. F. Foghts Foundation
Funding: Torben og Alice Frimodts Foundation
Funding: Aase og Ejnar Danielsens Foundation
Funding: Oda og Hans Svenningens Foundation
Funding: Torkild Steensbecks Legat
Funding: Foundation for research in Neurology
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Inclusion criteria
* Pathogenic variant in the anoctamin 5 gene * Age more than 18 years
Exclusion criteria
None
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Change in fat fraction during 3 years | 40 minutes | Change in fat fraction (%) during 3 years in muscles from the whole body measured from Dixon MRI. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Change in fatigue during 3 years | 5 minutes | Change in fatigue during 3 years measured through the questionnaire 'fatigue severity score', FSS. 9 questions scoring from 1-7 where 7 correlates to "strongly agree". Higher score means more fatigue. |
| Change in quality of life during 3 years | 15 minutes | Change in quality of life during 3 years measured through the questionnaire SF36. 36 questions. Higher score means higher quality of life. |
| Change in pain and function during 3 years | 10 minutes | Change in pain and function in lower limbs during 3 years measured through the questionnaire 'low back pain rating scale ', LBPRS. 6 questions rated from 0-10 with 0 meaning no pain. Higher score means more pain. |
| Change in motor function during 3 years | 30 minutes | Change in motor function during 3 years measured using the test the Motor Function Measure 32. 32 tasks to do, each task score 0-3. Higher score means better motor function. |
| Change in handgrip during 3 years | 10 minutes | Change in handgrip during 3 years measured using a handgrip dynamometer. |
| Change in whole body muscle strenght during 3 years | 30 minutes | Change in muscle strenght in whole body during 3 years measured using the technique 'manual muscle testning (MMT)' and the 'manual rating scale (MRC) ' |
| Change in muscle strenght during 3 years | 30 minutes | Change in muscle strenght in knee, hip and back during 3 years measured using a staionary dynamometer (a biodex dynamometer) |
| Change in balance during 3 years | 20 minutes | Change in balance during 3 years measured using a biosway |
Countries
Denmark
Outcome results
None listed