Table 2.
Outcomes after treatment with neoGAA. eow, every other week; HCM, hypertrophic cardiomyopathy; 6MWT, 6 min walk test; PEG, percutaneous endoscopic gastrostomy.
| Case #/sex/age at switch | neoGAA dosage and duration | Heart involvement on rhGAA | Heart involvement on neoGAA (months of treatment) |
Motor performanceon rhGAA | Motor performance on neoGAA (months of treatment) | Other clinical outcomes before and after neoGAA |
Anti-rhGAA titer |
|---|---|---|---|---|---|---|---|
| #1 M 6 years |
40 mg/kg/eow 9 months |
Biventricular hypertrophy with main left involvement, ventricular mass 105 g/m2 and LVEF 74% | Clear HCM regression with a ventricular mass of 53 g/m2 (3 months) |
Profound hypotonia, never walked | Improved arms lifting and grasping objects (6 months) | PEG, tracheostomy already performed, improved speech | 51,200 |
| #2 F 11 years |
40 mg/kg/eow 8 months |
HCM normalized after 3 months | None | Never walked | Improved arms lifting and grasping objects (3 months) |
PEG already present. Improved swallowing and fatigue tolerance |
400 |
| #3 F 15 years |
40 mg/kg/eow 18 months |
HCM normalized after 10 months | None | Walking at 1 year, sudden loss of motor abilities at 15 years | 6MWT improvement (3 months) | Improved quality of life | 0 |
| #4 F 13 years |
40 mg/kg/eow 20 months |
HCM normalized after 6 months | None | Hypotonia, ptosis, walking with braces | Walking unaided, 6MWT improvement (9 months) | Improvement of spirometry results |
0 |