داء بومبي المتأخر: البروتوكول التالي عند فشل تصعيد جرعة ألغلوكوسيداز ألفا في تثبيت وظائف العضلات الهيكلية والجهاز التنفسي

References

DOI: 10.1186/s13023-024-03373-w

Patients may present at any age, but mostly after the age of 1 year during childhood or adulthood.

They usually present with proximal (limb girdle) myopathy leading to progressive motor disability (more closely related to disease duration than to the age of the patient), with waddling gait, mostly without cardiac involvement.

Switching to a second-generation ERT can be considered if there is no indication of skeletal muscle and/or respiratory function stabilization or improvements after at least a year on first-generation recombinant alpha-glucosidase, or if the patient suffers from severe infusion-associated reactions that cannot be adequately managed.

Compared to alglucosidase alfa plus placebo, cipaglucosidase alfa plus miglustat probably improves % predicted FVC compared to alglucosidase alfa plus placebo.