“The Pompe Community Diaries” is a series that follows the journeys, musings, and challenges of those in the Pompe disease community. This week, I’m introducing Steve Bersani. Steve served as an officer in the Boston Police Department for 30 years before retiring in 2018. He operated in…

Young patients with late-onset Pompe disease (LOPD) who do not yet show disease symptoms should be regularly monitored for timely identification of symptoms so that treatment can be started early, a study suggested. Current diagnostic procedures enable early diagnosis of LOPD even in pre-symptomatic stages, said the researchers, who…

Among almost 3,000 people with symptoms consistent with Pompe disease, fewer than 40 were found to carry genetic mutations known to cause the rare condition and receive a confirmed diagnosis, according to the findings of a new study that researchers say highlights the challenges of diagnosing Pompe. Importantly, the…

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…

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-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…