I was excited yet nervous for my recent bucket-list vacation to Hawaii with my wife, Jean, her best friend from Montana, and one of my co-workers. The four of us flew six hours to Honolulu on Hawaiian Airlines and stayed on the ninth floor of Marriott’s Ko Olina Beach Club,…
late-onset Pompe disease
In an interview study, mothers of children who tested positive for Pompe disease in genetic newborn screening programs — and would be diagnosed with the late-onset type, or LOPD — expressed uncertainty about the age of symptom onset for their sons and daughters, and concerns about their child’s future.
I remember the day vividly. It was an overcast morning on Saturday, Nov. 17, 2018. My wife and I hopped in the car and headed north toward Marina del Rey, California, giving me an hour to contemplate all the thoughts racing through my mind. A few months earlier, my neurologist…
A woman was diagnosed with advanced late-onset Pompe disease after three decades of being misdiagnosed, according to a recent case report. After diagnosis, the woman began treatment with Myozyme (alglucosidase alfa), which led to marked improvements that enabled her to live independently. The findings underscore a need for…
A report describes the unusual case of a man with late-onset Pompe disease (LOPD) that manifested with abnormalities in blood flow in the brain causing stroke-like symptoms. Abnormalities affecting blood vessels in the brain may be an under-recognized complication of LOPD, the researchers said. The study, “…
A small study in the U.K. is evaluating a noninvasive MRI-based tool that could potentially detect late-onset Pompe disease (LOPD) without the need for invasive muscle biopsies. This specialized muscle MRI also would monitor glycogen buildup — a hallmark of the condition — in muscles over time. The…
Age and the use of an assistive device like a walker may tell how well a patient with late-onset Pompe disease will do in a six-minute walk test (6MWT), a small study suggests. The 6MWT is considered a gold standard for determining, through difficulties in walking, the severity of…
The levels of BNIP3, a protein implicated in muscle fiber atrophy and increased autophagy — two features of late-onset Pompe disease (LOPD) — are increased in muscle samples from LOPD patients relative to healthy people, a small study shows. Autophagy is a pathway by which cells break down damaged…
Pain is relevant but appears to be unrelated to damage to small nerve fibers in the skin of late-onset Pompe disease patients who are using enzyme replacement therapy, a study found. The study, “Small fiber involvement is independent from clinical pain in late-onset Pompe disease,” was published in…
The investigational gene therapy ACT-101 overall was well-tolerated among three people with late-onset Pompe disease (LOPD) who were treated in a Phase 1/2 clinical trial. Moreover, the trial results also showed that treatment markedly increased levels of the GAA enzyme — deficient in Pompe disease — in the patients’ muscle…