Table 1.
Initial demographics and baseline characteristics
| Patient ID | Sex | Race/Ethni-city | Age diag-nosed | Age enrolled | Wt. (kg) | Allele 1 | Allele 2 | ERT (mo) | FVC (% predict-ted) | 6MWT (m) | Serum GAA (nmol/ml/h) | Serum CK (U/L) | Muscle symptoms | Walking aids | Ventila-tion |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 001 | M | White/non-Hispanic | 42 | 52 | 99.1 | c.-32-13T>G | c.2608C>T (R870X) | 125 | 50 | 320.6 | 165.6 | 1733 | Low back pain | None | BiPAP |
| 002 | M | White/non-Hispanic | 61 | 69 | 71 | c.-32-13T>G | c.1951_1982 delGGinsT | 109 | 75 | 400.1 | 189.2 | 208 | Back pain | Walking stick | BiPAP |
| 003 | M | White/non-Hispanic | 62 | 71 | 94 | c.-32-13T>G | c.1143delC | 113 | 69 | 462.5 | 251.5 | 290 | Back pain, right shoulder weakness | None | BiPAP |