Pompe Disease Insights

Navigating 8-Year Journey with Rare Genetic Disorder Diagnosis and Treatment

The author shares their 8-year journey since being diagnosed with Pompe disease, highlighting the challenges and adaptations in treatment and daily life. They discuss the importance of patient advocacy and continuous learning to manage the condition effectively.

Higher ERT Doses Normalize Life for Girl with Infant-Onset Pompe Disease

Early and higher doses of enzyme replacement therapy (ERT) significantly improved the quality of life for a girl with infantile-onset Pompe disease, allowing her to lead a more normal life. The treatment helped her achieve developmental milestones and reduced her need for medical interventions.

Government to Cut Duties on Rare Disease and Cancer Drugs to Ease Patient Costs

The government is considering reducing duties on drugs for rare diseases and cancer to ease the financial burden on patients, including those with pompe disease. This move aims to make these essential medications more affordable and accessible.

Recent studies have provided insights into Pompe Disease, particularly in predicting disease phenotype and evaluating treatment efficacy. Rajamani et al. (2025) found that specific features of the GAA gene, such as the presence of a splice variant and the location within certain protein domains, can help predict whether an individual will develop infantile or late-onset Pompe Disease. This information is crucial for early prognosis and therapeutic decision-making.

In terms of treatment, Schoser et al. (2025) conducted a study on the efficacy of cipaglucosidase alfa plus miglustat for late-onset Pompe Disease, showing a positive effect on patients' walking distance. Despite challenges posed by COVID-19, which affected the study's schedule, the results were consistent across different statistical analyses, reinforcing the treatment's potential benefits.

Meanwhile, Byrne et al. (2025) provided a corrigendum to a previous publication on the same treatment, emphasizing the importance of accurate reporting in clinical outcomes.