Congenital Muscular Dystrophy Clinical Trial
Official title:
Congenital Muscular Dystrophy (CMD) and the Feasibility of Hyperinsufflation Therapy to Slow Rate of Decline in Lung Volume
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®.
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 pressure titration and hyperinsufflation protocol to determine Peak
Insufflation Pressure (PIP). Subjects will be given their randomization assignment into
either the Treatment or Control arm. Both groups will have pressure titration and
hyperinsufflation protocols for Peak Insufflation Pressure (PIP) at each study visit.
For the Treatment Group, participants at Visit 1 will leave with prescription settings on
the Cough Assist® device and they will begin the 12 month interventional period with 15
minute, twice daily hyperinsufflation treatments. Between visits, the Treatment group will
mail back the information card (SD card) from the Cough Assist to measure adherence. All
visits will be identical for both treatment and control group and will include all the
activities from Visit 1 except for randomization.
There will be 3 scheduled phone visits for the Daily Phone Diary (DPD) encounters. The DPD
is a phone-based diary that tracks patients and / or caregivers through their activities
over the past 24 hours using a cued recall procedure. A set of two DPDs (one weekday and one
weekend day) is conducted by phone at each of the 3 assessment points.
The investigators anticipate a significant number of subjects will live greater than 100
miles from the research centers. Travel arrangements will be made by family and paid for by
the study through additional funding provided by Cure CMD.
;
Allocation: Randomized, Endpoint Classification: Efficacy Study, Intervention Model: Parallel Assignment, Masking: Single Blind (Investigator), Primary Purpose: Treatment
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