3 Year Follow up on Patients With Pathogenic Anoctamin 5 Variants
试验速览
- 阶段
- 不适用
- 状态
- 进行中（未招募）
- 入组人数
- 17
- 试验地点
- 1
- 主要终点
- Change in fat fraction during 3 years
研究概览
简要总结
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
详细描述
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
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Pathogenic variant in the anoctamin 5 gene
- •Age more than 18 years
排除标准
- 未提供
研究组 & 干预措施
Limb Girdle Muscular Dystrophy type 2L
At baseline, 1- and 3-year follow up will the outcome measures be assessed. There will be no intervention.
干预措施: No intervention - pure observational study (Other)
结局指标
主要结局
Change in fat fraction during 3 years
时间窗: 40 minutes
Change in fat fraction (%) during 3 years in muscles from the whole body measured from Dixon MRI.
次要结局
- Change in quality of life during 3 years(15 minutes)
- Change in fatigue during 3 years(5 minutes)
- Change in balance during 3 years(20 minutes)
- Change in pain and function during 3 years(10 minutes)
- Change in handgrip during 3 years(10 minutes)
- Change in motor function during 3 years(30 minutes)
- Change in whole body muscle strenght during 3 years(30 minutes)
- Change in muscle strenght during 3 years(30 minutes)
研究者
Nanna Scharff Poulsen
Principal investigator
Rigshospitalet, Denmark