This new grant is one of more than 70 grants the CMTA has funded through its Strategy to Accelerate Research since 2008.
The CMTA announces the funding of a clinical research study to be conducted at the CMTA Center of Excellence at the University of Iowa. The study will look at pulmonary function for people who have CMT Type 2A (CMT2A). The aim of the study is to develop a night-time breathing treatment similar to CPAP (for sleep apnea) with the goal of helping respiratory issues and improving breathing for CMT2A patients.
CMT affects peripheral nerves called “somatic nerves” that carry motor and sensory information to and from the brain. These include the phrenic nerve that goes to the diaphragm and the intercostal nerves that go to the rib cage. Both the phrenic and intercostal nerves are necessary for these muscles to contract during respiration. When they don’t function, breathing is impaired.
Some forms of CMT, such as 2A, can affect breathing. In these cases, a profound weakness is usually present in infancy and early childhood. As with other forms of neuromuscular diseases, in rare cases children with CMT2A that have breathing problems can die due to respiratory failure. In these rare cases, patients suffer from what is called restrictive lung disease and become unable to breathe without ventilator support. This very sadly was the case with Marah Griffith, who died on Christmas Day in 2001 from respiratory failure from CMT. Her father and mother, JD and Brenda Griffith, made a donation in Marah’s honor to the CMTA through the CMT Foundation to fund this important clinical research study.
For more information about the CMTA and Type 2A, please go to www.cmtausa.org. If you are interested in learning more about participating in this study, please contact the CMTA Center of Excellence at the University of Iowa at 319-384-6362 or UICMTClinic@uiowa.edu.