Steve Bryson, PhD, science writer —

People with Pompe disease examined for a study in Mexico carried a combination of GAA gene mutations associated with both infantile and adult-onset types of the disease, a finding the authors said may be related to the genetic diversity of the Mexican population. “Further population-wide studies are required 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…

Using self-reported outcomes by adults with Pompe disease, researchers were able to estimate the minimal clinically important difference or MCID — the smallest outcome change that a patient perceives as important following treatment — after one year of enzyme replacement therapy (ERT). The differences reported by patients as clinically…

Long-term treatment with Pombiliti plus Opfolda (cipaglucosidase alfa/miglustat) safely improved motor function and stabilized or enhanced lung function in adults with late-onset Pompe disease (LOPD), according to newly published data from two clinical trials. Pompe disease is marked by a deficiency in an enzyme called acid alpha-glucosidase…

Switching from Lumizyme (alglucosidase alfa) to Nexviazyme (avalglucosidase alfa) was shown to improve breathing and motor function for most people with late-onset Pompe disease (LOPD) in a small real-world study. Many of the improvements, such as those seen in walking ability, were minimal, and did not reach…

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…

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…

Hypersensitive reactions to infusions of enzyme replacement therapies (ERT) to treat late-onset Pompe disease (LOPD) were primarily mild and nonallergic, a small study reported. Many reactions were reported after a year of well tolerated ERT and most of them occurred in women, data showed. After the reactions, the ERT…

Motor problems in people with Pompe disease may be explained by damage to muscle spindles, which are sensory receptors that detect muscle movement and help regulate muscle tone and maintain posture, a mouse study suggested. Muscle spindle structure and function were “severely compromised” in Pompe mice, resulting in a…

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…