PatientCrossroads CMD


A Study to Test Hyperinsufflation to Slow the Rate of Decline in Children With Collagen VI or LAMA2-CMD

**Recruitment for this study is closed***

Click here to view or download the Study Flyer

Study Start:
  April 2013
Study Status: Closed

This research study includes children ages 5 to 20 years old with Collagen 6 or LAMA2 (Merosin Deficient) Congenital Muscular Dystrophy. 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®.

Inclusion Criteria:

  • 5 years through 20.9 years of age with vital capacity ≥30 and ≤80% predicted within the past 12 months with vital capacity based on the highest value in past 12 months
  • either gender and we will try to recruit equal numbers of male and female,
  • confirmed Collagen VI or LAMA2 CMD by gene mutation or muscle / skin biopsy

Exclusion Criteria:

  • a major medical condition such as diabetes, renal failure, hepatic failure, cancer, or other known systemic disease or any neuromuscular disorder other than the CMD group
  • inability to perform reliable Pulmonary Function Test (PFT)
  • tracheostomy
  • use of daytime ventilatory support. Patients on positive pressure during sleep or who require cough augmentation will not be excluded. ID:  NCT01836627