Pompe symptoms

LOPD patients with difficulty swallowing need support: Study

Difficulty swallowing is a common problem for adults with late-onset Pompe disease (LOPD) and can have a sizeable impact on their quality of life, yet most of these patients aren’t receiving specialty care to address this issue, according to a recent study. Researchers noted that clinicians caring for LOPD…

How long before my diagnosis was I experiencing symptoms of Pompe?

A long time ago, in a galaxy far, far away, I was celebrating 36 years on this planet. I’d just returned from the mountains in my landspeeder when I received a phone call from my sister. My dad, who was five months into his second round of…

Stem Cell-based Gene Therapy Eliminates Symptoms of Pompe in Mice

Stem cell-mediated gene therapy normalized glycogen build-up in muscle, heart, and brain tissue of a Pompe disease mouse model, a study shows. Treatments also restored cellular defects and motor impairment associated with the condition. The researchers recommended stem cell-based gene therapy as a candidate for future clinical development. The…