Table 1.
Demographics and baseline characteristics.
| Patients (n = 12) | |
|---|---|
| Age (years) | 38 (25–55) |
| Female | 6 (50%) |
| Race | |
| White | 8 (67%) |
| Asian | 4 (33%) |
| Age at disease onset (years) | 26 (20–31) |
| Disease onset to enrollment (years) | 12 (1–32) |
| Weight (kg) | 78.7 (19.3) |
| BMI (kg/m2) | 25.9 (3.6) |
| GNE domain affected | |
| Epimerase/kinase | 10 (83%) |
| Kinase/kinase | 2 (17%) |
| Use of any assistive ambulatory device | 8 (67%) |
| Use of wheelchair | 3 (25%) |
| Plasma ManNAc (nmol/L)a | 402 (140) |
| Plasma Neu5Ac (nmol/L)b | 437 (139) |
| QMA upper extremity strength (kg) | 111 (1.5–294) |
| QMA lower extremity strength (kg) | 165 (55.6–292) |
| 6MWT distance (meters)c | 423 (276–565) |
| AMAT total score (range 0–45) | 32.17 (4–43) |
| HAP adjusted activity score (range 0–94) | 59.17 (7–94) |
| HAP maximum activity score (range 0–94) | 73.92 (15–94) |
| IBMFRS total score (range 0–40) | 31.75 (10–40) |
Data are n (%), mean (SD or range).
6MWT six-minute walk test, AMAT Adult Myopathy Assessment Tool, BMI body mass index, HAP human activity profile, IBMFRS Inclusion Body Myositis Functional Rating Scale, QMA quantitative muscle assessment.
aSI conversion for plasma concentrations of ManNAc (ng/ml)*4.517 = nmol/L.
bSI conversion for plasma concentrations of Neu5Ac (ng/ml)*3.237 = nmol/L.
cSI One nonambulatory patient was unable to perform the test.