داء تخزين الغليكوجين من النوع الثاني في مرض بومبي الطفلي سلبي الـ CRIM — ما يجب فعله عندما لا يكون العلاج الأولي بالإنزيم البديل وتحريض التسامح المناعي كافيَين

References

DOI: 10.1186/s13023-024-03373-w

About one third of infantile Pompe disease patients, depending on their genotype, do not express any GAA protein and are defined CRIM negative.

CRIM negative patients have a higher risk of producing antibodies against recombinant enzymes when treated with enzyme replacement therapy (ERT).

Therefore, it may be advisable that infantile-onset patients with unknown CRIM status are treated as if they were CRIM negative.

Dose may be increased up to 40 mg/kg/eow or 40 mg/kg/w in patients with classic infantile and in late onset patients showing a suboptimal response, plateau, or clinical decline.

Further, a high-dose regimen of 40 mg/kg week showed a better effect on survival and also on walking ability than the recommend dose in classic infantile patients.