Marisa Wexler, MS, senior science writer —

Adding the enzyme stabilizer miglustat did not improve the effectiveness of Lumizyme (alglucosidase alfa) or Nexviazyme (avalglucosidase alfa) in a mouse model of Pompe disease, a new study reports. “These data demonstrate that co-administration of miglustat with either [Lumizyme or Nexviazyme] to Pompe mice provides no additional…

Pombiliti (cipaglucosidase alfa) plus Opfolda (miglustat), a two-part therapy formerly known as AT-GAA, has been approved by the U.K.’s Medicines and Healthcare products Regulatory Agency (MHRA) as a treatment for adults with late-onset Pompe disease (LOPD). “The MHRA approvals for Pombiliti and Opfolda are a major step forward for adults…

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…

A newborn screening program for Pompe disease in Minnesota was found effective for getting babies with infantile-onset disease started on early treatment, but challenges remain for those with late-onset disease (LOPD). “The management of LOPD cases including the establishment of standardized follow up guidelines … and a better…

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…

The enzyme stabilizer Opfolda (miglustat), one part of the two-component therapy formerly known as AT-GAA (cipaglucosidase alfa/miglustat), has been approved by the European Commission to treat adults with late-onset Pompe disease (LOPD). The news comes a few months after the other part of AT-GAA, the enzyme replacement Pombiliti…

The switch to at-home infusions of enzyme replacement therapy (ERT) — made necessary due to the COVID-19 pandemic — had a positive effect on people with Pompe disease and their families, a new study has found. “Our data underline that new therapeutic solutions are possible for chronic diseases…

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…

A surgical technique called conjoint fascial sheath (CFS) suspension may help relieve drooping eyelids in children with infantile-onset Pompe disease (IOPD). “Surgical correction may provide a practical option for ptosis [drooping eyelid] correction in patients with IOPD,” the researchers wrote in “Blepharoptosis in infantile onset Pompe disease:…

After two years being treated with AT-GAA (cipaglucosidase alfa/miglustat), adults with late-onset Pompe disease (LOPD) maintained their improvements in walking ability and had stabilized breathing function, as well as a reduction in the levels of disease biomarkers, according to…