Living with Pompe Disease: How Early Enzymes Change the Odds for Children

Imagine a newborn baby who appears unusually 'floppy', struggling to lift their head, while their heart works overtime just to keep beating. This frightening physical reality is often the first sign of Infantile-Onset **Pompe disease** (IOPD). A recent study analysed 30 paediatric patients to understand how modern treatments alter the course of this rare condition. At its core, this is a plumbing problem within the cells. If the body lacks a specific enzyme, then glycogen (sugar) builds up like toxic waste inside the muscles and heart. The researchers measured clinical data from two groups: severe infantile cases and milder late-onset cases (LOPD). They found that while LOPD patients mostly faced muscle weakness, the infants suffered from dangerous heart enlargement.

Treating Pompe disease with enzymes

The most significant finding concerns Enzyme Replacement Therapy (ERT). Doctors infuse the missing enzyme directly into the bloodstream. The data showed that if patients received ERT, then their heart function improved significantly. The researchers calculated that the risk of recurrent clinical events dropped by nearly 94% in the treated group compared to the untreated trajectory. However, the battle is far from won. The study measured a mortality rate of 56% during the follow-up period, exclusively affecting the infantile group. Furthermore, the team documented non-muscular issues, such as hearing loss and white matter abnormalities in the brain. This suggests that while ERT rescues the heart and muscles, the treatment may not fully protect the nervous system. It highlights the need for constant monitoring beyond just physical strength.