News

Antibodies to ERT may not limit response in LOPD

Nearly 1 in 4 adults with late-onset Pompe disease develop high levels of antibodies against enzyme replacement therapy (ERT). However, that does not mean they have a reduced response to treatment, a systematic review study has revealed. The findings are in line with previous data from patients with…

FDA clears Pombiliti plus Opfolda to treat adults with LOPD

Pombiliti (cipaglucosidase alfa) plus Opfolda (miglustat), a combination therapy formerly known as AT-GAA, has been approved by the U.S. Food and Drug Administration (FDA) to treat certain adults with late-onset Pompe disease (LOPD) who are not improving on their current enzyme replacement therapy (ERT). Its developer, Amicus…

Adding miglustat to Lumizyme or Nexviazyme no help to mice

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…

Disease severity varies widely in LOPD gene therapy screening

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…

New GAA mutations linked to infantile-onset disease

Three new mutations in the GAA gene were linked with heart disease and severe breathing problems in infants with infantile-onset Pompe disease (IOPD) in Malaysia, a study reports. “The novel mutations identified in this study expands the mutation spectrum for IOPD,” the researchers wrote. Also, among the 17 IOPD patients…

Gene therapy shows promise in mouse model of Pompe

A new gene therapy for Pompe disease showed promise in a mouse model, researchers say, fully clearing in muscles the buildup of glycogen that characterizes the genetic disorder and also reducing it nearly completely in the brain. Glycogen is the stored form of glucose, or sugar — the body’s…

Pombiliti plus Opfolda approved for LOPD in the UK

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…