A growing number of countries, including the United States, have implemented newborn screening for Pompe disease. American clinicians review the cases of children screened and treated with enzyme replacement therapy (ERT) as soon as possible (within 4 weeks):
- the records of 17 patients diagnosed at birth (infantile form of Pompe disease) who received ERT and were followed for at least 18 months were analyzed;
- 7 were CRIM-positive and 3 were CRIM-negative,
- 8 of them—including the 3 CRIM-negative cases—received an immunotolerance protocol consisting of rituximab, methotrexate, and intravenous immunoglobulins,
- the combination of this protocol and the early initiation of treatment made possible by newborn screening has led to quite remarkable results,
- only one patient died during the study period; all others are alive, ambulatory, without ventilatory support, and without progressive cardiomyopathy.
The authors rightly advocate for the expansion of this neonatal screening to as many patients as possible.
