Disease progression

Mitochondria dysfunction is linked to hypertrophic cardiomyopathy — when the heart becomes enlarged and cannot pump blood efficiently — in people with Pompe disease, according to a new study from China. The disease-causing mechanisms were explored in a patient-derived heart cell model with characteristics of Pompe disease, including low…

Disease severity varied widely among adults with late-onset Pompe disease who underwent screening to assess their eligibility to participate in a gene therapy clinical trial, a study reports. Elevated levels of antibodies against the viral delivery vector were one of the exclusion criteria, suggesting that future studies may use…

Some children with Pompe disease have dysfunctional motor neurons — the specialized nerve cells that control movement — in addition to muscle abnormalities, a new study highlights. Findings from the small study suggest that patients with motor neuron impairment may be less likely to see clinical benefits from…

Blood levels of neurofilament light chain (NfL) — a marker of nerve cell damage — are increased from infancy to young adulthood in classic infantile-onset Pompe disease (IOPD) patients given enzyme replacement therapy (ERT), a study shows. This contrasted significantly with the blood NfL level reduction seen in…

Among children with classic infantile-onset Pompe disease (IOPD), enzyme replacement therapy (ERT) was associated with prolonged survival, but mortality rates remained high, according to a recent French study. In general, while mortality rates were high in the first three years of life, patients then stabilized on ERT for…

Last week, my 5-year-old son, Cayden, had his annual checkup with the gastroenterologist. It’s been over a year since we last saw her, but he’s been doing so well with GI issues that she told us we no longer have to come back! This was great news that I…

Cardiac function normalized within a year of starting enzyme replacement therapy (ERT) for children with classic infantile-onset Pompe disease (IOPD) and remained stable over about 10 years, a study found. The findings were confirmed with standard and more advanced techniques to look at cardiac function. In light of the…

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…

MRI scans of people with classic infantile Pompe disease showed a change in the microscopic structure of certain brain regions — but no damage was seen in patients with the late-onset form of the disease, a new study reports. “We conclude that, while no deviations from typical neurodevelopment were…

An MRI-based study found that progression of white matter involvement in the brain among patients with infantile-onset Pompe disease (IOPD) occurred at different rates and correlated with cognitive decline — despite ongoing treatment. White matter abnormalities also were tied to elevated bloodstream levels of the neurofilament light chain (NfL)…