Table 1.
Anthropometric, clinical and health-related quality of life assessments of patients at baseline and after 8 months of elosulfase alfa therapy in the MorquioA Early Access Program (MOR-EAP).
| Patient number |
||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #1 |
#2 |
#3 |
#4 |
#5 |
#6 |
#7 |
||||||||
| 7 years old |
7 years old |
7 years old |
11 years old |
13 years old |
16 years old |
17 years old |
||||||||
| Baseline | 8 months | Baseline | 8 months | Baseline | 8 months | Baseline | 8 months | Baseline | 8 months | Baseline | 8 months | Baseline | 8 months | |
| Weight (Kg) | 16.5 | 16.8 | 16.0 | 17.2 | 22.0 | 24.0 | 19.4 | 24.0 | 31.4 | 31.8 | 35.2 | 35.6 | 48.3 | NA |
| Lenght (cm) | 95.0 | 96.0 | 91.4 | 93.0 | 120.0 | 124.0 | 107.0 | 108.0 | 113.0 | 113.8 | 145.5 | 145.5 | 137.0 | 137.0 |
| BMI | 18.3 | 18.2 | 19.2 | 19.9 | 15.2 | 15.6 | 16.9 | 20.5 | 24.6 | 24.5 | 16.6 | 16.9 | 25.7 | NA |
| FVC (%) | 63.0 | 75.0 | 85.3 | 92.0 | 95.0 | 95.0 | 86.0 | 75.0 | 67.0 | 74.0 | 100.0 | 104.0 | 123.0 | 132.0 |
| FEV1 (%) | 60.0 | 50.0 | 75.6 | 82.0 | 94.0 | 93.0 | 93.0 | 80.0 | 70.0 | 83.0 | 99.0 | 102.0 | 127.0 | 135.0 |
| Echocardiogram | Mit In +, AO | NA | Mit In +, AO | Mit In +, AO | Normal | Normal | IVSHT+ | Normal IVS | MIT IN +, IVS | MIT IN+ | MIT IN+, AO | MIT IN+, AO | MIT IN+ | MIT IN+ |
| MRI | Mult spinal | Mult spinal | C1-C3 | C1-C3 | C1-C2 | C1-C2 | C1-C2 | C1-C2 | C2 | C2 | Cervical | Cervical | Stenosis D11 | Stenosis D11 |
| Corneal opacity | + | + | + | + | Normal | Normal | + | + | + | + | Normal | Normal | + | + |
| Hypoacusia | + | + | ++ | ++ | Normal | Normal | ++ | ++ | + | ++ | + | + | + | + |
| EQ-5D-5 L, EQ VAS score | 50 | 65 | 25 | 45 | 50 | 50 | 50 | 50 | 45 | 45 | NA | NA | 60 | 75 |
| GALNS mutation | p.G301C/T394P [c.901G > T] + [1180A > C] | p.G47R/p.P781LfsX9 | p.R386C/[A231G/H238H] + E477E | p.R386C/p.G301C | p.G301C I R386H [c.901G > T] + [c.1157G > A] | p.Glu121Asp (c.363G > C) Homozigosis | p.[G301C + W141X] /c. [901G > T + 423-566del] | |||||||
| Urine GAGs (mg/mmol creatinine) | NA | NA | 17.9 | NA | 23.0 | <limit | 19.8 | 7.4 | 9.0 | 12.0 | 5.7 | 3.8 | 1.7 | NA |
Abbreviations: BMI, body mass index; EQ-5D-5L, EuroQoL 5 dimensions; FEV, forced expiratory volume (% predicted); FVC, forced vital capacity (% predicted); GAGs, glycosaminoglycans; Mit In: Mitral Insufficiency; Ao In: Aortic Insufficiency; IVS HT: Interventricular Septum Hypertrophy; MRI, magnetic resonance imaging; Mult spinal, multiple spinal abnormalities; NA, not available.
Results for the EQ-5D-5 L are given as EQ VAS score, which ranged from 100 (the best state one can imagine) to0 (the worst state one can imagine).