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…
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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…
The strength of hip muscles and gait wherein only one leg is in contact with the ground were identified as key parameters that affect walking and falls in people with late-onset Pompe disease (LOPD). Both could help assess the effectiveness of new therapies and should be “priority targets for…
A diaphragm pacer may help people with Pompe disease who can’t breathe on their own rely less on a mechanical ventilator during the day, a small study suggests. Many people with Pompe disease have respiratory problems and require full-time ventilation to support breathing, so being able to breathe without…
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 (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…
Heart defects detected with cardiac MRI (CMR) may help diagnose classic infantile-onset Pompe disease in early childhood, a case report from China suggests. An imaging exam showed a patient’s heart ventricles — the chambers that pump blood through the bloodstream and lungs — were enlarged, along with fibrosis (scarring).
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…
Starting people with late-onset Pompe disease on enzyme replacement therapy (ERT) at any age can benefit their bone health, including reducing the risk of weak, brittle bones, or osteoporosis, a small study suggests. The study, “Effects of enzyme replacement therapy on bone density in late onset Pompe…
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…