Author Archives: Margarida Maia

Broad Age of Onset May Link GAA Variants With Modifying Factors

The same common GAA gene variants that cause Pompe disease can lead to symptoms first appearing at very different ages, and this may be due to factors that modify how genes work, a study of a global database suggests. These findings “will be important for diagnosis, genetic counseling, decision making…

LOPD Adults in China Cite Poor Quality of Life

Adults with late-onset Pompe disease (LOPD) report worse physical health and quality of life than their counterparts with other rare diseases, a national survey in China has found. In the study, however, stronger social support — in the form of social interaction — was linked to better quality of…

Study Stresses Importance of Early Treatment for Different Mutations

A better understanding of Pompe disease-causing genetic mutations may help with early treatment intervention, even if symptoms are subtle, a small Hungarian study suggests. Researchers found that the precise localization of a mutation determines the impact on GAA enzyme activity, which in turn has been associated with disease onset.