Fig. 3: Longitudinal creatine kinase (CK) and urinary Glc4 in cross-reactive immunological material (CRIM)-negative infantile Pompe disease (IPD) patients treated with enzyme replacement therapy (ERT) + immune tolerance induction (ITI).
(a–c) CK in early, intermediate, and late treatment groups, respectively. (d–f) Urinary Glc4 in early, intermediate, and late treatment groups, respectively. The early treatment group exhibited continued stable trends in both CK and urinary Glc4 at or near normal range (CK upper limit of normal: 320 U/L, age 0–9 years; Glc4 upper limit of normal: 20 mmol/mol creatinine, age 0–6 months; 14 mmol/mol creatinine, age 6–12 months; 8.3 mmol/mol creatinine, age 1–3 years; 3.0 mmol/mol creatinine, age >3 years). Persistent elevation of biomarkers was seen in both intermediate and late treatment groups with a number of patients exhibiting worsening trends over time. This pattern is consistent with previously reported findings in long-term survivors of IPD.
