ChinaResearch and clinical trials
Gene therapy tested in 6 children with infantile-onset Pompe disease
A study published in a journal and reviewed by independent scientists. Even so, a single study is not conclusive; it needs to be replicated.
In China, 6 children with infantile-onset Pompe disease were given a single dose of gene therapy. The children had previously received enzyme treatment for a long time. During one year of follow-up, none of them needed to be permanently connected to a breathing machine. Three children made gains such as walking or crawling. However, there was no additional improvement in lung and heart measurements.
What does it mean for patients and families?
This is an early study with very few patients, and the treatment is not approved. Larger and longer studies are needed.
Source
Scientific paper: AAV9-mediated GAA gene therapy following enzyme replacement therapy discontinuation in children with infantile-onset Pompe disease. eClinicalMedicine, 2026. DOI: 10.1016/j.eclinm.2026.104081 · PubMed 42541184
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.