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

先天性肌营养不良症患者的胸壁被动拉伸

• 批准号: 8708194
• 负责人: Raouf S. Amin
• 金额: $ 34.63万
• 依托单位: CINCINNATI CHILDRENS HOSP MED CTR
• 依托单位国家: 美国
• 财政年份: 2013
• 资助国家: 美国
• 起止时间: 2013-08-01 至 2016-05-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8708194
• 关键词: Adherence; Adopted; Adverse event; Affect; American; Birth; Caregivers; Characteristics; Chest; Chest wall structure; Child; Childhood; Collagen Type VI; Contracture; Control Groups; Data; Deformity; Development; Disease; Economic Inflation; Elasticity; Enrollment; Environmental air flow; Exhalation; Failure; Future; Genetic; Health Care Costs; Individual; Investigation; Lead; Life; Lung; Measures; Mechanics; Morbidity - disease rate; Motor; Muscle; Muscle Weakness; Muscular Dystrophies; Myopathy; Names; Neuromuscular Diseases; Patients; Process; Protocols documentation; Quality of life; Randomized; Randomized Controlled Trials; Rare Diseases; Regimen; Research; Respiratory Failure; Respiratory Muscles; Respiratory System; Secondary to; Societies; Stretching; Telephone; Testing; Time; Tissues; Vital capacity; Vital capacity measurement; abstracting; base; burden of illness; congenital muscular dystrophy; design; diaries; group intervention; improved; lung volume; meetings; mortality; neuromuscular; pressure; public health relevance; pulmonary function; respiratory; skeletal; standard of care; tool; treatment duration

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.

描述（由申请人提供）： 先天性肌营养不良症（CMD）继发于胶原VI缺乏症是一种独特的遗传性神经肌肉疾病，从出生开始表现为运动功能的进行性丧失、骨骼畸形和使人衰弱的挛缩。呼吸衰竭是该病发病和死亡的主要原因。由于CMD没有现有的治疗方法，大多数受影响的儿童在生命的第一和第二个十年之间发展为呼吸衰竭并需要无创通气。有证据表明，在肌营养不良症中，肺容量的进行性减少比呼吸肌无力程度的预期更严重。胸壁僵硬和肺弹性降低共同降低了呼吸系统的顺应性，被认为是肺容量不成比例减少的重要原因。我们的研究旨在验证以下假设：在CMD受试者中，通过肺高充气治疗每日被动拉伸胸壁可以减缓肺容量的年下降率，延迟呼吸衰竭的发生并改善生活质量。我们将证明：1）通过测量每个受试者的呼吸压力-容积关系，可以通过过度充气获得最大肺充气，并估计相应的压力，2）患有CMD的受试者将能够在5个月的时间内坚持每天两次15分钟的高吹入方案，以及3）证明通过对17名参与干预组和17名参与观察组的受试者进行为期一年的研究，两组之间肺活量下降率的差异将产生> 0.5的效应量。这项应用的结果将为未来通过肺过度充气对神经肌肉疾病患者进行每日被动拉伸胸壁的随机对照试验铺平道路。