3 Year Follow up on ANO5 Patients
- Conditions
- Limb Girdle Muscular DystrophyNeuromuscular Diseases
- Interventions
- Other: No intervention - pure observational study
- Registration Number
- NCT05206617
- Lead Sponsor
- Rigshospitalet, Denmark
- 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
Recruitment & Eligibility
- Status
- ACTIVE_NOT_RECRUITING
- Sex
- All
- Target Recruitment
- 17
- Pathogenic variant in the anoctamin 5 gene
- Age more than 18 years
None
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Arm && Interventions
Group Intervention Description Limb Girdle Muscular Dystrophy type 2L No intervention - pure observational study At baseline, 1- and 3-year follow up will the outcome measures be assessed. There will be no intervention.
- Primary Outcome Measures
Name Time Method 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 Outcome Measures
Name Time Method 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 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 balance during 3 years 20 minutes Change in balance during 3 years measured using a biosway
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 handgrip during 3 years 10 minutes Change in handgrip during 3 years measured using a handgrip dynamometer.
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 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)
Trial Locations
- Locations (1)
Copenhagen Neuromuscular Center
🇩🇰Copenhagen, Region Hovedstaden, Denmark