3 Year Follow up on ANO5 Patients

Study Overview
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Brief Summary
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The aim of the study is to investigate progression in muscle affection in patients with pathogenic variants in the anoctamin 5 gene to: investigate possible progression of disease over time investigate good and reliable outcome measures

Detailed Description
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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: investigate possible progression of disease over time investigate good and reliable outcome measures

Official Title
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3 Year Follow up on Patients With Pathogenic Anoctamin 5 Variants

Conditions
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Neuromuscular Diseases, Limb Girdle Muscular Dystrophy

Intervention / Treatment
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* Other: No intervention - pure observational study


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Pathogenic variant in the anoctamin 5 gene Age more than 18 years Exclusion Criteria: None

Ages Eligible for Study
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Minimum Age: 18 Years

Sexes Eligible for Study
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All

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Limb Girdle Muscular Dystrophy type 2L<br>At baseline, 1- and 3-year follow up will the outcome measures be assessed. There will be no intervention. | Other: No intervention - pure observational study<br>* No intervention<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Change in fat fraction during 3 years | Change in fat fraction (%) during 3 years in muscles from the whole body measured from Dixon MRI. | 40 minutes | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Change in fatigue during 3 years | 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. | 5 minutes | 
| Change in quality of life during 3 years | Change in quality of life during 3 years measured through the questionnaire SF36. 36 questions. Higher score means higher quality of life. | 15 minutes | 
| Change in pain and function during 3 years | 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. | 10 minutes | 
| Change in motor function during 3 years | 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. | 30 minutes | 
| Change in handgrip during 3 years | Change in handgrip during 3 years measured using a handgrip dynamometer. | 10 minutes | 
| Change in whole body muscle strenght during 3 years | Change in muscle strenght in whole body during 3 years measured using the technique 'manual muscle testning (MMT)' and the 'manual rating scale (MRC) ' | 30 minutes | 
| Change in muscle strenght during 3 years | Change in muscle strenght in knee, hip and back during 3 years measured using a staionary dynamometer (a biodex dynamometer) | 30 minutes | 
| Change in balance during 3 years | Change in balance during 3 years measured using a biosway | 20 minutes | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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MRI, Neuromuscular disorder, Outcome measure, Progression