Congenital muscular dystrophy outcome measures

The 173rd ENMC/TREAT-NMD workshop on congenital muscular dystrophy (CMD) outcome measures is the 9th CMD workshop, beginning in 1993 with the establishment of a CMD consortium. The workshop brought together 22 clinicians and experts from five countries to advance the implementation of suitable clinical outcome measures and endpoints specific for the CMDs to advance CMD clinical trial readiness. The CMDs are a genetically diverse group of early onset disorders of muscle with dystrophic features in the muscle biopsy.

The workshop focused on three specific goals: to identify clinically relevant functional classes within the individual CMD subtypes that could be combined for the purpose of clinical outcomes; to review currently available motor scales for their suitability for the functional classes and specific subtypes and to outline CMD common data elements to support the launch of a future international CMD longitudinal study.

The workshop highlighted the critical need to develop outcome measures, and determine the disease driven rate of change per endpoint (motor or pulmonary), the responsiveness of each motor scale to measure change within the time course of a clinical trial and the validity of the scale to the CMD context.

For more information please visit the ENMC website.

The workshop report is available for download HERE.