Table 1.
Participant demographics and baseline clinical information
| Parameter | Final study cohort (N = 29) |
|---|---|
| Age, years | |
| Mean (SD) | 43 (10) |
| Median (IQR) | 41 (35, 53) |
| 20–39 | 45% (N = 13) |
| 40–69 | 55% (N = 16) |
| Sex, % (N) | |
| Male | 10% (N = 3) |
| Female | 90% (N = 26) |
| Race, % (N)a | |
| White | 86% (N = 25) |
| Non-white | 14% (N = 4) |
| Age at onset, years | |
| Mean (SD) | 26 (13) |
| Median (IQR) | 30 (17, 35) |
| <18 | 21% (N = 6) |
| ≥18 | 59% (N = 17) |
| Unknown | 21% (N = 6) |
| Age at diagnosis, years | |
| Mean (SD) | 37 (12) |
| Median (IQR) | 36 (29, 46) |
| <18 | 7% (N = 2) |
| ≥18 | 93% (N = 27) |
| Disease durationb, years | |
| Mean (SD) | 18 (12) |
| Median (IQR) | 14 (7, 24) |
| <10 | 24% (N = 7) |
| ≥10 | 55% (N = 16) |
| Unknown | 21% (N = 6) |
| Diagnostic delayc, years | |
| Mean (SD) | 10 (11) |
| Median (IQR) | 6 (2, 13) |
| <10 | 45% (N = 13) |
| ≥10 | 34% (N = 10) |
| Unknown | 21% (N = 6) |
| Mobility (past 7 days), % (N) | |
| Assisted | 17% (N = 5) |
| Unassisted | 83% (N = 24) |
| Breathing assistance, % (N) | |
| Assisted (BiPAP, CPAP) | 38% (N = 11; BiPAP = 8, CPAP = 3) |
| Unassisted | 62% (N = 17) |
| Treatments, % (N) | |
| ERT (alglucosidase alfa) | 86% (N = 25) |
| Pain medications (OTC) | 31% (N = 9) |
| Pain medications (Rx) | 14% (N = 4) |
| Walking aid | 24% (N = 7) |
| Physiotherapy | 3% (N = 1) |
| Investigational ERT (avalglucosidase alfa) | 3% (N = 1) |
| Exercise | 3% (N = 1) |
| None | 7% (N = 2) |
BiPAP bilevel positive airway pressure, CPAP continuous positive airway pressure, ERT enzyme replacement therapy, IQR interquartile range, OTC over the counter, Rx prescription, SD standard deviation
aNon-white includes African American (N = 1), Native American (N = 1), and unknown (N = 2)
bDisease duration: current age−age at first symptom onset
cDiagnostic delay: age at diagnosis−age at first symptom onset