Primary Purposes:

  1. To define a common set of pelvic and shoulder girdle COAs for future research
  2. To follow the progression of the disease

Inclusion criteria:

  • Age Range: 6-65 years old
  • A genetically or functionally confirmed mutation in ANO5, CAPN3, DYSF, or DNAJB6

Exclusion criteria:

  • Must be ambulatory at the time of enrollment
  • Any other illness that would interfere with the ability to undergo safe testing or would interfere with the interpretation of the results in the opinion of the site investigator

Study Visits:

  • 2 Day Baseline
  • Visit 6 month follow up 12 month follow up
  • Time per visit: Approximately 4.5 hours

Measures Included:

  • Medical History
  • Physical Therapy Measures
  • Biomarker Labs
  • Respiratory Testing
  • Questionnaires

More information, including contact information, can be found on the U.S. National Library of Medicine Website: https://clinicaltrials.gov/ct2/show/NCT03981289

Study Flyer