Neonatal screening for Pompe disease in Italy shows higher than expected incidence

Partager sur

The largest European study of newborn screening for Pompe disease was conducted in north-eastern Italy over a seven-year period and found:

  • an incidence of 1 in 18,795 (i.e. 39 newborns with Pompe disease out of 206,741 tested). As in other countries (Taiwan, Japan, United States, etc.), newborn screening has revealed an increasing incidence of the disease with the early identification of patients with a late-onset form;
  • parameters to distinguish early forms – cardiac involvement and abnormal tetraglucose (Glc4) levels – that were not found in late-onset forms;
  • a great effectiveness of early treatment with enzyme replacement therapy for babies with an early-onset form, since all the newborns treated between 5 and 19 days of life are, seven years later, still alive, ambulant and without respiratory or feeding problems.
  • no symptoms for late-onset patients who did not receive treatment.

 

Newborn screening for Pompe disease in Italy: Long-term results and future challenges. Gragnaniello V, Pijnappel PWWM, Burlina AP et al. Mol Genet Metab Rep. 2022 Oct 22;33:100929.

On the same topic