Pt No. | Sex | Age | Disease Type | Genotype | Treatment | Baseline mSST | Bone Disease | Kyphosis/Scoliosis | Other Co-morbidity | Ambulation | No. of active days (> 4 epochs) | Average no. of active epochs per active day | No. of Events | Total PROs Completed |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1 | F | 29 | 3 | L444P/L444P | ERT | 14 | Moderate | Mild | Â | Fully Ambulant | 0 | 0 | 0 | 2 |
2 | F | 21 | 3 | L444P/L444P | ERT + SRT | 7 | Severe | Moderate |  | Reduced ambulation - acute injury | 1 | 9 | 6 | 8 |
3 | F | 19 | 3 | L444P/L444P | ERT | 5 | Moderate | Moderate | Â | Fully Ambulant | 35 | 12.91 | 4 | 11 |
4 | F | 22 | 3 | L444P/L444P | ERT | 2.5 | Mild | Mild | Â | Fully Ambulant | 5 | 16 | 8 | 5 |
5 | F | 23 | 3 | L444P/L444P | ERT | 2.5 | Mild | Mild | Â | Fully Ambulant | 184 | 20.39 | 102 | 36 |
6 | F | 18 | 3 | L444P/L444P | ERT | 11 | Mild - Moderate | Mild | Â | Fully Ambulant | 0 | 0 | 0 | 1 |
7 | F | 15 | 3 | L444P/L444P | ERT | 3 | Mild | Mild | Â | Fully Ambulant | 15 | 19.93 | 0 | 9 |
8 | F | 16 | 3 | L444P/E233D | ERT + Ambroxol | 17 | Mild | Moderate |  | Requiring support - Neurology | 47 | 15.51 | 1 | 8 |
9 | F | 22 | 3 | L444P/L444P | ERT | 2 | Moderate | Mild | Â | Fully Ambulant | 23 | 13.56 | 2 | 4 |
10 | F | 8 | 3 | L444P/D409H | ERT | 0.5 | Mild | Â | Juvenile Arthritis | Fully Ambulant | 2 | 13 | 3 | 0 |
11 | M | 7 | 3 | L444P/L444P | ERT + SRT | 1.5 | Mild | Mild |  | Fully Ambulant | 1 | 11 | 0 | 0 |
12 | F | 5 | 3 | L444P/L444P | ERT | 1.5 | Mild | Mild | Â | Fully Ambulant | 10 | 18.9 | 0 | 0 |
13 | F | 34 | 3 | L444P/L444P | ERT | 4 | Mild - Moderate | Mild | Rheumatoid Arthritis | Fully Ambulant | 56 | 9.34 | 11 | 10 |
14 | F | 36 | 1 | L444P/N370S | ERT | 0 | Mild | Mild | Â | Fully Ambulant | 103 | 16.05 | 0 | 12 |
15 | M | 42 | 1 | N370S/ Other Deletion | ERT | 0 | Mild | None | Â | Fully Ambulant | 77 | 17.1 | 0 | 0 |
16 | F | 27 | 3 | L444P/L444P | HSCT | 12.5 | Moderate | Surgical Correction | Â | Limited by pain | 0 | 0 | 0 | 0 |
17 | F | 31 | 3 | R463C/D409H | ERT | 5 | Mild | Surgical Correction | Â | Limited by pain | 7 | 16.25 | 1 | 4 |
18 | M | 48 | 3 | R463C/RecNcil | ERT | 8 | Severe | Surgical Correction | Â | Requiring support - Pain | 18 | 14.22 | 70 | 0 |
19 | M | 18 | 1 | F397S/Other Deletion | ERT | 3 | Mild - Moderate | Moderate | Â | Fully Ambulant | 16 | 15.44 | 0 | 3 |
20 | M | 13 | 1 | N370S/55bpdel | ERT | 0 | Mild | None | Â | Fully Ambulant | 14 | 17.36 | 1 | 0 |
21 | M | 15 | 1 | N370S/55bpdel | ERT | 0 | Mild | None | Â | Fully Ambulant | 6 | 20.17 | 1 | 4 |