Clinical, Biological and NMR Outcome Measures Study for Hereditary Inclusion Body Myopathy Due to Mutation of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine Kinase Gene (GNE)
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 发起方
- 入组人数
- 20
- 试验地点
- 2
- 主要终点
- Measure of changes in motor function and muscle strength assessment between 2 time points
研究概览
简要总结
The objective of the study is to identify the best clinical and biological outcome measures for further therapeutics approaches.
研究设计
- 研究类型
- Interventional
- 分配方式
- Non Randomized
- 干预模型
- Parallel
- 主要目的
- Basic Science
- 盲法
- None
入排标准
- 年龄范围
- 18 Years 至 65 Years（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Must be at least 18 years of age.
- •Must be willing and able to provide consent.
- •Must have a genetic diagnosis of HIBM, GNE myopathy, Quadriceps Sparing Myopathy (QSM), Inclusion Body Myopathy Type 2, distal myopathy with rimmed vacuoles (DMRV), or Nonaka disease.
- •Must be willing and able to comply with all study requirements.
- •Affiliated to or a beneficiary of a social security category
- •Must take part in the HIBM-PMP UX001-CL401 study
排除标准
- •Received ManNAc therapy or other similar substance
- •Any unrelated, comorbid disease or condition that, in the view of the investigator, would interfere with study participation or would affect safety.
- •Patients with specific contraindication to MRI (i.e. metallic foreign body, claustrophobia...) will be allowed to participate, but MRI will not be performed.
- •Pregnant women.
研究组 & 干预措施
HIBM patient
motor function, muscle strength, NMR, 24h urine and serum collections at baseline, then annually
干预措施: motor function and strength assessment (Other)
HIBM patient
motor function, muscle strength, NMR, 24h urine and serum collections at baseline, then annually
干预措施: NMR assessment (Other)
HIBM patient
motor function, muscle strength, NMR, 24h urine and serum collections at baseline, then annually
干预措施: 24h urine and serum collection (Other)
Controls
motor function, muscle strength, 24h urine and serum collections at baseline only
干预措施: motor function and strength assessment (Other)
Controls
motor function, muscle strength, 24h urine and serum collections at baseline only
干预措施: 24h urine and serum collection (Other)
结局指标
主要结局
Measure of changes in motor function and muscle strength assessment between 2 time points
时间窗: baseline, 1 year, 2 years, 3 years
Measure of changes in NMR upper and lower limbs assessment between 2 timepoints(not for controls)
时间窗: baseline, 1 year, 2 years, 3 years
24h urine and serum collection, measures at different time points
时间窗: baseline, 1 year, 2 years, 3 years
次要结局
未报告次要终点