Visits | Visit 1 | Visit 2 | Visit 3 | Visit 4 | |
---|---|---|---|---|---|
Day 1 | Day 2 | ||||
Time (Month) | 0 | 3 | 12 | 18 | |
+/− 1 Week | +/− 2 Weeks | +/− 2 Weeks | |||
Obtain Consent | X | ||||
Confirm Eligibility | X | ||||
Urine Pregnancy Testa | X | X | X | X | |
History and Physical Exam | X | X | X | X | |
Blood for FSHD DNA Testing | X | X | |||
Blood for Serum Extraction | X | X | X | X | |
Blood for RNA (PAX gene tube) | X | X | |||
Blood for Plasma (EDTA tube) | X | X | X | X | |
PROs: FSHD-HI, PROMIS57, UEFI, and FDI physical score | X | X | X | ||
Electrical Impedance Myography | X | X | X | X | X |
FSHD-COM / MFM Domain 1 | X | X | X | X | X |
Strength Testing: QMT and MMT | X | X | X | X | |
Bedside spirometry | X | X | X | X | |
DEXA | X | X | |||
Clinical Severity Scores | X | X | X | X | |
Iowa Oral Performance Instrument | X | X | X | X | X |
Reachable Workspace | X | X | X | X | X |
Fall/Exercise Questionnaire | X | X | X | X | |
Fall Assessmentb | X | ||||
“Domain-delta” questionnaire | X | X |