Breathing problems, muscle weakness lead to LOPD diagnosis

A 43-year-old woman who was experiencing breathing problems and muscle weakness was eventually diagnosed with late-onset Pompe disease (LOPD) through genetic testing, highlighting the challenges of diagnosing the condition due to its rarity and nonspecific symptoms, according to a study. “It is important to consider late-onset Pompe disease in…

Regular physical activity boosts well-being in adults with Pompe

Staying physically active according to the World Health Organization (WHO) guidelines and engaging in a personalized exercise program can significantly improve the physical well-being of adults with late-onset Pompe disease, a small study found. Moreover, regular physical activity was seen to delay disease progression among the study’s participants. “Endurance,…

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…

Screening for LOPD may help ID undiagnosed patients

While it is not very common, adults with late-onset Pompe disease (LOPD) may go undiagnosed or misdiagnosed, even if they show symptoms or signs suggestive of the disease, a study from Spain has found. Dried blood spots — a form of sampling where a drop of blood is blotted…

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…

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…