The Cooperative International
Neuromuscular Research Group

Expanded 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) and Expanded DNHS (eDNHS). The DNHS enrolled over 400 DMD boys and young men between 2006 and 2016, The program re-opened in 2023 with the launch of the eDNHS.

The eDNHS extends the legacy of the original DNHS, a landmark global effort whose data has shaped industry clinical trials, informed the development of validated outcome measures, and supported FDA and EMA regulatory submission. The DNHS data has also played a central role in establishing care guidelines endorsed by agencies such as the United States Center for Disease Control and the American Heart Association.

The eDNHS is currently enrolling individuals with DMD at sites worldwide. The study is open to boys and men with DMD, regardless of functional status, participation in active or past clinical trials, or current or past therapies and medications. Study visits take place every six (6) months during the first two (2) years of participation, followed by annually. At each visit, the following data is collected:

  • Participant demographics including DMD genetic information and/or muscle biopsy data
  • Vital signs
  • Ambulatory status and use of durable medical equipment
  • Medications
  • Medical history and events, including:
    • Respiratory
    • Cardiac
    • Ophthalmologic
    • Nutrition
    • Fractures
    • Pressure sores
    •  Hospitalizations and surgeries
  • Strength and Function:
    • Bayley Scales of Infant and Toddler Development (Bayley IV)
    • Anthropometrics
    • Goniometry
    • Brooke Upper Extremity and Vignos Lower Extremity Scales
    • North Star Ambulatory Assessment (NSAA)
    • Time function tests: 10 meter walk/run, 4 stair climb, time to stand, stand from chair
    • 100 meter walk/run test
    • Six minute walk test
    • Grip strength
    • Performance of the upper limb (PUL 2.0)
    • Egen Klassification (EK) Scale
    • Pulmonary function testing
  • Quality of life assessments:
    • Work Productivity & Activity Impairment: Caregiver (WPAI:CG)
    • EuroQoL-5D (EQ-5D)
    • Patient Review of Systems
    • DMD Lifetime Mobility Scale (DMD-LMS)
    • Eating Assessment Tool-10 (EAT-10)
    • Upper Limb PROM (UL-PROM)
    • NeuroQoL/PROMIS Questionnaires
    • Pediatric Outcome Data Collection Instrument (PODCI)
    • Ages & Stages – Socioemotional Questionnaire (ASQ-SE)
    • Ages & Stages Questionnaire 3 (ASQ-3)
    • Strengths & Difficulties Questionnaire (SDQ)
    • Personal Adjustment and Role Skills Scale III
    • Social Responsiveness Scale 2 (SRS-2)
  • Blood samples for genotyping and biomarkers

 

The DNHS was funded by grants from the Department of Education (DOE), National Institutes of Health (NIH), Department of Defense (DOD), Parent Project Muscular Dystrophy (PPMD), and commercial partners. The current, ongoing eDNHS is funded by commercial partners and Parent Project Muscular Dystrophy (PPMD).

For information about the ongoing eDNHS, contact eDNHS@trinds.com. For more information about the completed DNHS, contact info@trinds.com or visit https://cinrgresearch.org/publications/data-summary-requests/ to submit a DNHS data request.