Table 3.
Change in muscle function and biomarker levels over time.
| Characteristic | Patient 1 | Patient 2 | Patient 3 | Patient 4 | |||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Age in years | 1.6* | 2.6 | 8 | 9.6 | 10.2 | 1.7* | 2.2 | 3.5 | 2.62* | 6.9 | 7.8 | 9 | 2.52 |
| 6MWT | too young for 6MWT | too young for 6MWT | too young for 6MWT | too young for 6MWT | |||||||||
| Meters; | 368.5; | 401.1; | 458; | 373; | 386; | 464; | |||||||
| Mean for age†† | 483 ± 40 | 496 ± 53 | 506 ± 45 | 463 ± 40 | 488 ± 35 | 496 ± 53 | |||||||
| Range for age | 400–600 | 395–600 | 400–601 | 380–600 | 438–583 | 395–600 | |||||||
| In / Below Range | Below | Within | Within | Below | Below | Within | |||||||
| SD below mean | 2.86 | 1.79 | 1.06 | 2.25 | 2.91 | 0.60 | |||||||
| % predicted*** | 62.42% | 63.98% | 70.90% | 70.09% | 69.64% | 76.67% | |||||||
| % predicted**** | 67.84% | 70.86% | 77.79% | 72.38% | 75.02% | 79.41% | |||||||
| GMFM (total percent score) | 45.7 | 67.63 | 93.70 | 92.66 | 94.65 | 67.32 | 93.69 | 96.8 | 97.91 | 65.52 | |||
| Dimension A (%) | 43 | 96.08 | 98.04 | 98.04 | 98.04 | 52.94 | 98.04 | 100 | 100 | 94.12 | |||
| Dimension B (%) | 78.33 | 90 | 98.33 | 98.33 | 98.33 | 86.67 | 96.67 | 100 | 100 | 70 | |||
| Dimension C (%) | 64.29 | 78.57 | 100 | 95.24 | 95.24 | 73.8 | 100 | 100 | 100 | 59.52 | |||
| Dimension D (%) | 33.33 | 51.28 | 84.62 | 89.74 | 87 | 71.79 | 82.05 | 92.31 | 92.31 | 69.23 | |||
| Dimension E (%) | 6.9 | 22.22 | 87.5 | 81.94 | 94.44 | 51.39 | 69.4† | 91.67 | 91.67 | 97.22 | 34.72 | ||
| GSGC** | 12 | 10 | 10 | 10 | 11 | 9 | |||||||
| CK (U/L) | 2736 | 2642 | 1038 | 1139 | 687 | 239 | 143 | 128 | 1063 | 961 | 1694 | ||
| Urinary Glc4 (mmol/MCN) | 55 | 21.1 | 18.8 | 17.8 | 6.6 | 2.1 | 2.6 | 34.9 | 9.4 | 13.3 | 9.3 | 14.9 | |
*
Assessment prior to ERT initiation;
**
Range: 4 to 27 lower scores better;
†
other dimensions not evaluated;
mo.: months; 6MW: 6 min walk test; AIMS: Alberta infant motor scales, BOT-2: Bruininks-Oseretsky Test of Motor Proficiency, Second Edition; GMFM: Gross Motor Function Measure; GSGC: Gait, Stairs, Gowers, Chair score; PDMS-2: Peabody Developmental Motor Scales-2nd Edition.
††
: according to [12]
***
: according to [15](regression equation includes age, gender, height, procedure not completed in accordance with ATS guidelines - child pushed wheel),
****
: according to [16] (regression equation includes age, gender, height, weight), done in accordance with ATS guidelines. MCN = moles of creatinine.