Table 1.
Baseline and follow-up clinical assessment results of 9 Taiwanese patients with mucopolysaccharidosis VI receiving enzyme replacement therapy for 6.2 to 11.2 years.
| Patient | Gender | Mutation | ASB, nmol/h/mg proteina | Age at start of ERT (years) | Height (z score) | Weight (z score) | ERT durationb (years) | Urinary GAG, μg/mg creatininec |
6-min walk (m) |
||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Baseline | Follow-up | Baseline | Follow-up | ||||||||
| 1 | F | p.L132P ND | 14.3 | 11.7 | − 5.9 | − 1.6 | 11.2 | 734.0 | 77.6 | 141 | 288 |
| 2 | M | p.G303E (homozygous) | 16.9 | 7.6 | − 6.6 | − 1.9 | 8.2 | 430.9 | 199.6 | 356.9 | 407 |
| 3 | M | p.R315X p.F399L | 7.5 | 8.3 | − 5.2 | − 1.7 | 8.2 | 366.4 | 116.0 | 367.2 | 512 |
| 4 | M | p.L132P (homozygous) | 9.6 | 8.5 | − 3.8 | − 1.3 | 8.2 | 372.1 | 60.1 | 392 | 570 |
| 5 | F | p.Q239R p.F399L | 12.6 | 21.1 | − 9.7 | − 3.4 | 6.3 | 501.5 | 36.5 | NA | NA |
| 6 | F | p.F399L p.S465X | 4.9 | 17.7 | − 11.2 | − 3.4 | 7.7 | 463.7 | 226.1 | 78 | NA |
| 7 | F | exon 4 deletions (homozygous) | 5.5 | 1.4 | − 0.9 | − 1.9 | 6.2 | 593.5 | 293.3 | NA | 378 |
| 8 | F | p.F399L (homozygous) | 2.3 | 3.6 | − 1.9 | 1 | 8.3 | 336.4 | 130.7 | 243 | 120 |
| 9 | M | p.H430N ND | 7.1 | 4.4 | − 3.2 | − 0.8 | 7.1 | 281.8 | 111.1 | 200 | 550 |
| Mean | 9 | 9.4 | − 5.4 | − 1.7 | 7.9 | 453.4 | 139.0 | 254.0 | 403.6 | ||
| SD | 4.8 | 6.5 | 3.4 | 1.3 | 1.5 | 140.8 | 84.4 | 121.9 | 160.9 | ||
| Patient | 3-min stair climb (stairs) | Coins picking up (sec) | FEV1 (L) | FVC (L) | Disability Indexd | Adverse events | |||||
| Baseline | Follow-up | Baseline | Follow-up | Baseline | Follow-up | Baseline | Follow-up | Baseline | Follow-up | ||
| 1 | 104 | 154 | 44 | NA | 0.61 | 0.65 | 0.66 | 0.76 | 1.75 | 0.375 | Y |
| 2 | 143 | 177 | 61 | 24 | 0.42 | 0.53 | 0.44 | 0.59 | 2.125 | 1.5 | Y |
| 3 | 154 | 243 | 35 | 38 | 0.67 | 0.8 | 0.75 | 0.92 | 2 | 1.625 | N |
| 4 | 198 | NA | 35 | 12 | NA | NA | NA | NA | 0.875 | 1.25 | N |
| 5 | NA | NA | NA | NA | NA | NA | NA | NA | 3 | 3 | N |
| 6 | 78 | NA | NA | NA | 0.28 | 1.48 | 0.29 | 1.94 | 1.75 | 3 | N |
| 7 | NA | 191 | NA | NA | NA | NA | NA | NA | 2.5 | 0.75 | N |
| 8 | 97 | NA | NA | 28 | NA | 0.48 | NA | 0.6 | 2.125 | 1.625 | Y |
| 9 | 142 | NA | NA | 44 | NA | NA | NA | NA | 1.5 | 0.75 | N |
| Mean | 130.9 | 191.3 | 43.8 | 29.2 | 0.50 | 0.79 | 0.54 | 0.96 | 1.958 | 1.542 | |
| SD | 40.8 | 37.7 | 12.3 | 12.5 | 0.18 | 0.41 | 0.21 | 0.56 | 0.603 | 0.933 | |
ND, not determined; ASB, arysulphatase B; ERT, enzyme replacement therapy; GAG, glycosaminoglycan; FEV1, forced expiratory volume in 1 s; FVC, forced vital capacity; NA, not available; SD, standard deviation.
Normal value: > 121.0.
ERT duration up until the time of this study.
Normal values are age dependent: 1–3 years, 20.0–110.5; 3–5 years, 10.7–112.0; > 5 years, 10.8–77.5.
Based on the Health Assessment Questionnaire (HAQ) for subjects > 18 years of age, or Child Health Assessment Questionnaire (CHAQ) for subjects ≤ 18 years of age. Disability Index ranged from 0 to 3, with 0 = no disability and 3 = severe disability.