Duchenne Natural History

The Cooperative International Neuromuscular Research Group (CINRG) has established the largest prospective multicenter natural history study to date in Duchenne muscular dystrophy (DMD), the CINRG Duchenne Natural History Study (DNHS). Since 2006 the study enrolled over 400 DMD boys and young men. Grants from the Department of Education (DOE), National Institutes of Health (NIH), Department of Defense (DOD), and Parent Project Muscular Dystrophy (PPMD) have enabled the collection of data and study visits from these 400+ participants for up to 10 years. The study is listed on clinicaltrials.gov at https://clinicaltrials.gov/ct2/show/NCT00468832.

Between 2006 and 2016 participants completed the following visits at participating CINRG centers from around the world:

Calendar Year by Month Baseline Month 3 Month 6 Month 9 Month 12
Year 1: Ambulant
Year 1: Nonambulant 
Year 2
Year 3
Year 4
Year 5
Subsequent Years

 

A very comprehensive list of clinical measures on each participant has been compiled, these include:

  • Participant demographics including DMD genetic information and/or muscle biopsy data
  • Vital signs
  • Physician assessment
    • Medication review including detailed steroid use and regimen
    • Cardiac function from routine cardiac tests
    • Spine assessment from routine x-rays
    • History of fractures
    • Review of past hospitalizations
    • Review of past surgeries
    • Review of ophthalmologic findings
    • Pressure sores
  • Quality of life assessments: body system review, Pediatric quality of life (PedsQL), Pediatric Orthopaedic Society of North America (POSNA) pediatric musculoskeletal functional health questionnaire, World Health Organization Quality of Life (WHOQOL), and Neuro-QOL (Quality of Life in Neurological Disorders)
  • Strength and Function: link to CQMS pageNote: The performance upper limb (PUL) was not included in the study protocol from 2006-2016
  • Blood samples for genotyping and biomarkers

For information or to speak with our team about gaining access to data summaries or to discuss collaborations please email info@trinds.com.