Damage to the blood vessels in the brain is a common but under-recognized manifestation of late-onset Pompe disease (LOPD), according to a recent study from China. Among a small group of LOPD patients, various abnormalities were observed that affected both small and large blood vessels. Given the observed prevalence…
Disease progression
A 1-year-old boy with infantile-onset Pompe disease (IOPD) showed improved muscle strength and signs of less heart inflammation four months after receiving gene therapy, according to a case report. The findings in this case were confirmed with cardiac MRI, a noninvasive test that uses radio waves and magnets to…
Treatment with Lumizyme (alglucosidase alfa) improved lung function in the short term and slowed lung function decline over the long term among people with late-onset Pompe disease (LOPD), according to a 13-year, real-world analysis. Patients with poor lung function before treatment saw the greatest early gains, while those…
Quantitative MRI (qMRI) imaging of the muscles is a useful technique for identifying signs of compromised muscle health in people with neuromuscular conditions like Pompe disease, according to a small study. The study identified specific patterns of qMRI changes in the thigh muscles of people with late-onset Pompe…
For most adults with late-onset Pompe disease (LOPD), a fairly significant improvement in walking ability is needed to be noticeable, but for patients who are already experiencing difficulty walking, a slowing of decline can be meaningful, a new study reports. “Patients with severe baseline conditions should not be expected…
Most people with classic infantile-onset Pompe disease (IOPD) develop brain abnormalities despite treatment with Myozyme (alglucosidase alfa), and these abnormalities are associated with poorer results on cognitive tests. That’s according to a study, “Long term survival in patients with classic infantile Pompe disease reveals a…
An easy survey of 20 questions agrees well with other tools used in clinical practice to measure physical function in people with late-onset Pompe disease (LOPD), according to a study that suggests it may aid in measuring and tracking symptoms over time. Having a reliable way to measure physical…
Despite being on enzyme replacement therapy (ERT) for a long time, some children with infantile-onset Pompe disease (IOPD) can still develop problems in the brain and spinal cord, a small study suggests. Manifestations such as overactive bodily reflexes, encephalopathy (damage to the brain), and…
Children with classic infantile-onset Pompe disease (IOPD), who were first treated as infants with Myozyme (alglucosidase alfa) — sold as Lumizyme in the U.S. — continue to experience heart, breathing, and cognitive deficits, as well as motor problems, despite long-term use of the older therapy, a small German…
Higher doses of Lumizyme (alglucosidase alfa) than what’s approved may improve survival outcomes for children with classic infantile onset Pompe disease (IOPD), according to a new study. An analysis of data from the Pompe Registry collected over nearly two decades showed that IOPD patients given Lumizyme at higher…
Recent Posts
- Parenting a child with Pompe comes with worries about an uncertain future
- High antibodies limit enzyme therapy in infantile Pompe, study finds
- Our family’s experience with Pompe disease is just one of many
- Use of methotrexate may make Pompe treatment more effective, per study
- 5 years strong: Combo LOPD therapy preserves walking and lung function