The first CMD Science Town Hall Meeting presented the CMD community with preliminary results of the CMD Comparative Outcome Measure Study, Part One which took place at NIH in June 2010 and was funded by Cure CMD and the National Institute of Neurologic Diseases and Strokes (NINDS). The presentation reviewed the definition of an outcome measure and explained the focus on defining outcome measures for the CMD population. People with CMD can present across a broad spectrum from those who are more mildly affected to those who are more severely affected. To cover the entire scope of CMD, each participant in the June 2010 study provided and participated in:
General/Other: Medical History, Nursing Assessment, CMD Clinical Severity Index
Motor scales (to test motor function and ability): MFM 32, Egen Klassification, Myometry, Goniometry, 10 meter timed walk test
Quality of Life: Peds Quality of Life Generic Core and Neuromuscular Core (both for caregivers and affected individuals), Family Appraisal of Caregiving Questionnaire, Caregiver Priorities and Child Health Index of Life with Disabilities (CP Child)
Pulmonary: Forced Vital Capacity (sitting and supine)
Cognitive/Emotion/Psych: Child Behavior Checklist
Additionally, all children and young adults with Merosin Deficient CMD participated in neuropsychological cognitive assessments.
To assess how these results may change over time in a given individual with CMD and to assess whether the scales can pick up changes in motor strength and contractures as the disease progresses, we will repeat the study in June 2011 and 2012. To demonstrate this change, we will need to evaulate the same families who participated in the June 2010 study and will expand the number of study participants to allow additional people with CMD to participate with Merosin Deficient CMD or Collagen VI myopathy between the ages of 5-23 years of age.
Preliminary results show a high degree of correlation between clinical severity, the MFM 32 (motor scale), goniometry, myometry, respiratory function and items on the quality of life scale that address physical function and activities of daily living. Physical therapists demonstrated inter-rater reliability on the MFM 32, allowing for additional assessments using the North Star in ambulatory children and the Hammersmith Scale in nonambulatory children to be used in 2011 in lieu of repeated assessments using the MFM 32.
To participate or receive additional information, contact:
National Institute of Neurological Disorders and Stroke
National Institutes of Health
10 Center Dr, CRC 5-1350
Bethesda, MD 20892