Clinical Trial: A Study to Test Lung Stretch Therapy (Hyperinsufflation) in Children With Collagen VI Muscular Dystrophy

Study Status: Completed
Recruit Status: Completed
Study Type: Interventional

Official Title: Congenital Muscular Dystrophy (CMD) and the Feasibility of Hyperinsufflation Therapy to Slow Rate of Decline in Lung Volume

Brief Summary:

This research study includes children ages 5 to 20 years old with Collagen Type 6 Congenital Muscular Dystrophy or Laminin α2-related muscular dystrophy (LAMA2-MD). The goal of this study is to measure the effect of breathing exercise to stretch the chest in slowing the loss of breathing function. The breathing stretches are done with a machine called Cough Assist®.

The study is being done at Cincinnati Children's Hospital Medical Center and Children's Hospital of Philadelphia. The study involves traveling to one of these 2 centers for 4 visits over 13 months. The study also includes 3 sets of phone visits called Daily Phone Diaries.

Participants will be "randomized" into one of 2 study groups in a 1:1 ratio. The treatment group will use the Cough Assist® machine twice a day for 15 minutes. The control group will continue with their current daily care. The Cough Assist® is a machine that blows air into the lungs (insufflation) and helps pull air out of the lungs. The investigators will be blowing enough air into the lungs to cause a stretch to the chest. This is called hyperinsufflation.

Study visits will last about 5 to 6 hours and will include medical and quality of life questionnaires and pulmonary function tests to determine lung function and the individualized settings to be prescribed for the Cough Assist®.

Detailed Summary:

Congenital muscular dystrophy (CMD) secondary to collagen VI deficiency and Laminin α2-related muscular dystrophy (LAMA2-MD) are distinct genetic neuromuscular disorders presenting from birth. 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. The investigators' research aims at testing the hypothesis that in subjects with CMD Collagen VI and LAMA2-MD, 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.

This is a randomized, controlled, interventional study. The intervention consists of an individualized hyperinsufflation titration protocol. The duration of the active protocol will last 12 months. Because CMD presents a limited subject pool, this study is a partnership with Cincinnati Children's Hospital of Cincinnati (CCHMC) and Children's Hospital of Philadelphia (CHOP) with approximately half of the studies being done at each site. Potential subjects will be identified through Cure CMD international registry and disease specific websites to meet the needed number of subjects.

At Visit 1, subjects will have their baseline assessments, QOL (quality of Life) questionnaires, and
Sponsor: Children's Hospital Medical Center, Cincinnati

Current Primary Outcome: Difference in rate of decline of lung vital capacity between the two groups [ Time Frame: Baseline and app. weeks 17, 34, and 52 ]

Original Primary Outcome: To determine difference in rate of decline of lung vital capacity between the two groups [ Time Frame: Baseline and app. weeks 17, 34, and 52 ]

Current Secondary Outcome:

Original Secondary Outcome:

Information By: Children's Hospital Medical Center, Cincinnati

Dates:
Date Received: April 12, 2013
Date Started: April 2013
Date Completion:
Last Updated: July 25, 2016
Last Verified: July 2016