Inspiratory Muscle Training in Patients With Nemaline Myopathy
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 42
- 试验地点
- 1
- 主要终点
- Change of maximal inspiratory pressure (cmH2O)
研究概览
简要总结
Nemaline myopathy is a rare congenital myopathy. Respiratory failure is the main cause of death in these patients. The primary objective of this study is to determine the effect of a 8-week inspiratory muscle training program on respiratory muscle function in nemaline myopathy patients. The secondary objective is to determine respiratory muscle function in nemaline myopathy patients and its correlation with clinical severity and general neuromuscular function. The nemaline myopathy patients will be included in the first phase for a clinical characterization. From this phase patients will be selected for the second phase, which is a controlled before-after trial of inspiratory muscle training. The primary outcome is the change in maximal inspiratory pressure (MIP) after active inspiratory muscle training
详细描述
Rationale: Nemaline myopathy is a group of congenital, hereditary neuromuscular disorders with variable symptoms such as muscle weakness, swallowing dysfunction, and dysarthria. Respiratory failure is the main cause of death in nemaline myopathy and occurs even in ambulant patients who otherwise appear to be only mildly affected; respiratory muscle weakness may even be the presenting feature. Inspiratory muscle training has shown to increase inspiratory muscle strength in patients with other neuromuscular disorders. It is hypothesized that inspiratory muscle training improves respiratory muscle function in nemaline myopathy patients with respiratory muscle weakness.
Objective: The primary objective is to determine the effect of a 8-week inspiratory muscle training program on respiratory muscle function in nemaline myopathy patients. The secondary objective is to determine respiratory muscle function in nemaline myopathy patients and its correlation with clinical severity and general neuromuscular function.
Study design: The study consist of two phases. Phase 1: A screening phase with an open design from which patients will be selected for the second phase. Phase 2: A controlled before-after trial of inspiratory muscle training. The 2 conditions tested are sham IMT and active IMT.
Study population: Nemaline myopathy patients from the local neuromuscular database will be recruited. Furthermore, other centres in the Netherlands will be contacted to expand the database of nemaline myopathy patients. Phase 2 requires 23 patients.
Intervention: Active IMT consists of 15 minutes of IMT, twice a day, 5 days per week for 8 weeks, at a training workload of 30% of MIP using a resistive inspiratory muscle training device. Sham IMT consists of similar training regime using a resistive inspiratory muscle training device where the resistance has been removed.
研究设计
- 研究类型
- Interventional
- 分配方式
- Non Randomized
- 干预模型
- Sequential
- 主要目的
- Supportive Care
- 盲法
- None
入排标准
- 年龄范围
- 6 Years 至 80 Years（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •genetically-confirmed nemaline myopathy (mutations in one of the genes causing nemaline myopathy: TPM3, NEB, ACTA1, TPM2, TNNT1, KBTBD13, CFL2, KLHL40, KHLH41, LMOD3, MYPN, RYR1)
- •informed consent from participant or legal representative
- •age-range: between the age of 6-80 years
排除标准
- •history of another condition that affects respiratory muscle strength or function (e.g. COPD)
结局指标
主要结局
Change of maximal inspiratory pressure (cmH2O)
时间窗: Baseline, after 8 weeks sham IMT, after 8 weeks active IMT
Obtained with handheld device
次要结局
- Change of diaphragm thickening (ratio)(Baseline, after 8 weeks sham IMT, after 8 weeks active IMT)
- Change of diaphragm excursion (cm)(Baseline, after 8 weeks sham IMT, after 8 weeks active IMT)
- Change of forced vital capacity (% predicted)(Baseline, after 8 weeks sham IMT, after 8 weeks active IMT)
- Motor Function Measure test(Baseline)
- 6-minute walk test(Baseline)
- Mini-BESTest: Balance Evaluation Systems Test (Balance test for adults)(Baseline)
- Change of diaphragm thickness (mm)(Baseline, after 8 weeks sham IMT, after 8 weeks active IMT)
- Change of forced expiratory volume in the first second (% predicted)(Baseline, after 8 weeks sham IMT, after 8 weeks active IMT)
- Change of (Slow) vital capacity (% predicted)(Baseline, after 8 weeks sham IMT, after 8 weeks active IMT)
- Change of maximal expiratory pressure (cmH2O)(Baseline, after 8 weeks sham IMT, after 8 weeks active IMT)
- Change of peak cough flow (L/s)(Baseline, after 8 weeks sham IMT, after 8 weeks active IMT)
- Rate of muscle relaxation (N/s)(Baseline)
- Change of peak expiratory flow (L/s)(Baseline, after 8 weeks sham IMT, after 8 weeks active IMT)
- Change of twitch mouth pressure (cmH2O)(Baseline, after 8 weeks sham IMT, after 8 weeks active IMT)
- Measurement model for the pediatric quality of life inventory: PedsQL(Baseline)
- Change of sniff nasal inspiratory pressure (cmH2O)(Baseline, after 8 weeks sham IMT, after 8 weeks active IMT)
- Maximal voluntary contraction (N)(Baseline)
- Falls(100-day period from baseline on)
- Pediatric Balance Scale (Balance test for children)(Baseline)
- The RAND 36-Item Health Survey(Baseline)