Passive stretch of the chest wall in patients with Congential Muscular Dystrophy

描述(由申请人提供)： 先天性肌营养不良症(CMD)继发于VI型胶原缺乏，是一种独特的遗传性神经肌肉疾病，从出生起就表现为进行性的运动功能丧失、骨骼畸形和衰弱的肌挛缩。呼吸衰竭是该病发病率和死亡率的主要原因。由于CMD目前没有治疗方法，大多数受影响的儿童会出现呼吸衰竭，需要在生命的第一到第二个十年之间进行无创呼吸机。有证据表明，在肌营养不良症中，肺体积的进行性减少不成比例地大于呼吸肌无力程度的预期。胸壁僵硬和肺弹性降低共同降低了呼吸系统的顺应性，被认为是导致肺体积不成比例减少的重要因素。我们的研究旨在验证这一假设，即在CMD患者中，通过肺过度充气治疗每天被动拉伸胸壁可以减缓肺容量下降的年率，推迟呼吸衰竭的发生，并提高生活质量。我们将证明：1)通过在每个受试者中测量呼吸压力与容量的关系，可以通过过度充气获得最大肺膨胀并估计相应的压力；2)CMD受试者将能够在5个月的时间内坚持每天两次15分钟的过度充气方案；3)通过为期一年的研究，进入干预组的17名受试者和观察组的17名受试者，两组肺活量下降速度的差异将产生&gt；0.5的有效大小。这项应用的结果将为未来通过肺高胰岛素对神经肌肉疾病患者进行每日被动胸壁拉伸的随机对照试验的发展铺平道路。

DESCRIPTION (provided by applicant): Congenital muscular dystrophy (CMD) secondary to collagen VI deficiency is a distinct genetic neuromuscular disorder presenting from birth with progressive loss of motor function, skeletal deformities and debilitating contractures. Respiratory failure is the principal cause of morbidity and mortality from the disease. As CMD has no existing treatment, the majority of affected children develop respiratory failure and require non-invasive ventilation between the first and second decades of life. There is evidence that in muscular dystrophy the progressive decrease in lung volume is disproportionally greater than anticipated for the degree of respiratory muscle weakness. Chest wall stiffness and decreased lung elasticity which collectively diminish compliance of the respiratory system are believed to be important contributors to the disproportionate decrease in lung volume. Our research aims at testing the hypothesis that in subjects with CMD, daily passive stretch of the chest wall through lung hyperinsufflation therapy could slow down the annual rate of decline in lung volume, delay the onset of respiratory failure and improve quality of life. We will demonstrate that 1) By measuring in each subject the respiratory pressure volume relationship, maximum lung inflation by hyperinsufflation could be attained and the corresponding pressure estimated, 2) Subjects with CMD will be able to adhere to a twice-a-day 15 minute hyperinsufflation regimen over a period of 5 months and 3) Demonstrate that by studying for a period of one year 17 subjects enrolled in the intervention group and 17 in the observational group, the difference in the rate of decline of vital capacity between the 2 groups will yield an effect size of > 0.5. The results of this application will pave the way for the development of a future randomized control trial of daily passive stretch of the chest wall through lung hyperinsuflation in patients with neuromuscular disorders.