LOPD

Dysfunction of the phrenic nerve, which is important for controlling breathing, was observed in a small study of late-onset Pompe disease (LOPD) patients who had ongoing respiratory dysfunction despite enzyme replacement therapy (ERT). “Our study provide new insights regarding respiratory mechanisms in LOPD,” the researchers wrote. Should their…

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…

After more than a decade on Lumizyme (alglucosidase alfa), a teenager with late-onset Pompe disease (LOPD) developed an immune response against the therapy, which led to a worsening of disease symptoms. The patient was treated successfully with an immune-modulating therapy regimen that eliminated the aberrant immune response and…

People with late-onset Pompe disease (LOPD) rarely have genetic variations in genes that are important for making glycogen in muscle cells, a new study suggests. “We did not find a single variant that strongly affected the phenotype,” or observable characteristics in patients that result from the expression of a…

No anesthesia complications were reported and surgery was successful for a man with late-onset Pompe disease and airway problems who broke a bone in his upper arm, according to a case report from Spain. The man, 47, underwent surgery for the broken left arm under a combined anesthesia approach after…

Pombiliti (cipaglucosidase alfa), a component of AT-GAA, a two-part investigational therapy, has been approved to treat adults with late-onset Pompe disease (LOPD) in the European Union. The European Commission (EC) ruling comes on the heels of a positive opinion issued by the Committee for Medicinal Products for Human…

Parents of children with late-onset Pompe disease (LOPD) that is identified via newborn screening report not receiving enough information, guidance, and support, which leads to feelings of frustration and anxiety. That’s according to the study “Newborn screening for Pompe disease: Parental experiences and follow-up care 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…