Table 2.
Patient demographics, treatment details, anti-rhGAA antibodies, and biomarkers.
| Patient 6 | Patient 8 | |
|---|---|---|
| Gender | Female | Male |
| CRIM status | Positive | Positive |
|
GAA variant 1 (Amino acid change) |
c.799_803delins (p.Leu267Serfs*46) | c.1913G>C (p.Gly638Val) |
|
GAA variant 2 (Amino acid change) |
c.670C>T (p.Arg224Trp) |
c.307T>G (p.Cys103Gly) |
| Age at ERT initiation | 18.4 weeks | 2.3 weeks |
| ITI in ERT-naïve setting | Methotrexate only | Methotrexate only |
| Age at Seroconversion (time since ERT initiation) | 22.6 weeks (4.1 weeks) | 6.3 weeks (4 weeks) |
| Peak anti-rhGAA antibody titers (time since ERT initiation) | 25,600 (21 weeks) | 25,600 (10 weeks) |
| Anti-rhGAA antibody titers at Bortezomib start (time since ERT initiation) | 25,600 (21 weeks) | 6,400 (13 weeks) |
| Most recent anti-rhGAA IgG titers (time since ERT initiation) | 100 (278 weeks) | 0 (93 weeks) |
| CK at ERT initiation (U/L) | 759 | 529 |
| CK at bortezomib start (U/L) (time since ERT initiation) | 740 (25 weeks) | 256 (10 weeks) |
| Most recent CK (U/L) (time since ERT initiation) | 153 (286 weeks) | 237 (83 weeks) |
| Urinary Glc4 at ERT initiation (mmol/mol creatinine) | 45.8 | 8.9 |
| Urinary Glc4 at Bortezomib start (mmol/mol creatinine) (time since ERT initiation) | 15.1 (25 weeks) | 5.9 (13 weeks) |
| Most recent Urinary Glc4 (mmol/mol creatinine) (time since ERT initiation) | 33.4 (286 weeks) | 4.6 (83 weeks) |
ITI, immune tolerance induction; CRIM, cross-reactive immunologic material; ERT, enzyme replacement therapy; CK, creatine kinase; Glc4, glucose tetrasaccharide.