TürkiyeResearch and clinical trials
30 children with Pompe disease in Izmir: severe events were less common in those receiving enzyme therapy
A study published in a journal and reviewed by independent scientists. Even so, a single study is not conclusive; it needs to be replicated.
Ege University reviewed the records of 30 children with Pompe disease. 27 had the severe type that begins in infancy. Diagnosis was made at a median age of 5 months. In 83% of families, the mother and father were related. Severe events were markedly less common in those receiving enzyme therapy. Even so, some children with the infantile type died during follow-up.
What does it mean for patients and families?
Early diagnosis and early treatment appear to be important in these children. This is a single-center, retrospective study. Treatment decisions are made with a doctor.
Source
Scientific paper: Evaluation of Experienced Clinical Events in Pompe Disease Based on Real-life Data. Neuropediatrics, 2026. DOI: 10.1055/a-2777-2932 · PubMed 41453391
The source page was opened and read on October 7, 2026. Summary prepared by the Doktorclub editorial team and translated from Turkish; it has not yet been reviewed by a physician (a scientific board is being set up).
This page is translated from the Turkish original.
Related disease: Pompe disease (glycogen storage disease type II)
This page reports a development; it is not a treatment recommendation. Your doctor decides whether a treatment is right for you.