Children and adolescents with Ullrich congenital muscular dystrophy or Bethlem myopathy are invited to participate in a study of a daily breathing treatment regimen using a brand-name device called a CoughAssist.
MDA classifies Ullrich congenital muscular dystrophy as a type of congenital muscular dystrophy (CMD) and Bethlem myopathy as a type of limb-girdle muscular dystrophy (LGMD). Both are caused by genetic mutations that affect collagen 6, a protein that's normally present in the tissue surrounding muscle fibers.
Mutations in the same genes have been known to cause either CMD, with muscle weakness beginning at or near birth, or LGMD, with muscle weakness beginning later in life.
About the CoughAssist study
This is a randomized research study in which participants will be assigned into one of two groups by a computer, not by choice. Half the study participants will use a CoughAssist device with settings determined by specific testing at the research visits. Instructions will be to do breathing exercises twice a day. The other half of study participants will continue their usual respiratory treatments.
The CoughAssist machine, made by Philips Respironics, is designed to facilitate clearing respiratory tract secretions. It works by first applying positive pressure to the airway, and then rapidly shifting to negative pressure to enhance the individuals cough effort.
The study lasts one year and involves four clinic visits to either Cincinnati Children's Hospital or Children's Hospital of Philadelphia. It also includes six phone interview visits.
The trial is supported by the Cure CMD Foundation, and the National Heart, Lung and Blood Institute of the National Institutes of Health.
Prospective participants in the CoughAssist trial must:
For details, contact Katie Fields, clinical research coordinator at Cincinnati Children's, at (513) 636-0736 or firstname.lastname@example.org; or Anne Rutkowski, director of the Congenital Muscle Disease International Registry, in Los Angeles at (424) 210-7749 or email@example.com.
To learn more, also see Clinical Trial for Collagen VI-Related Myopathy.