Long-term use of Myozyme (alglucosidase alfa), marketed as Lumizyme in the U.S., helped individuals with late-onset Pompe disease (LOPD) maintain their ability to walk and breathe, while remaining generally safe and well tolerated over 15 years, according to a study in Italy. While responses varied, fewer than expected…

A man was diagnosed with late-onset Pompe disease (LOPD) after prenatal genetic counseling, even though he exhibited no symptoms. “This example stresses the importance of pretest consultation and the relevance of clinical and ethical implications during prenatal genetic testing for the whole family group,” scientists wrote. His condition was…

Pombiliti + Opfolda (cipaglucosidase alfa/miglustat) has been approved for adults with late-onset Pompe disease (LOPD) by Japan’s Ministry of Health, Labour and Welfare (MHLW). “We are delighted that we will now be able to offer a compelling new treatment option to patients living with late-onset Pompe disease in…

Researchers defined a threshold for improvements in lung function that adults with late-onset Pompe disease (LOPD) perceive as clinically meaningful when treated with enzyme replacement therapies. A study found that when thresholds were applied to data from the Phase 3 COMET study, more Pompe patients treated with the…

Screening people with unexplained muscle weakness or elevated levels of muscle damage markers can help to identify people with late-onset Pompe disease (LOPD), a study found. The study, “Screening for Pompe disease in Serbian patients with limb-girdle muscle weakness,” was published in Clinical Neurology and Neurosurgery. LOPD…

A genomic medicine designed to correct the genetic defect found in up to 90% of people with late-onset Pompe disease (LOPD) worked as intended in patient-derived muscle cells and a mouse model, according to a study. The study, “Splicing correction by peptide-conjugated morpholinos as a novel…

A woman in Canada with atypical and slowly progressive onset of muscle weakness affecting her eyelids, face, and throat muscles had shown symptoms for decades before being diagnosed with late-onset Pompe disease (LOPD), according to a study describing her case. Doctors considered several neuromuscular diseases before arriving at the…

A woman in her 30s with severe respiratory failure and muscle weakness due to late-onset Pompe disease (LOPD) repeatedly experienced misdiagnoses of anxiety attacks — with “multiple admissions in the psychiatric sector with anxiety disorder” — before genetic testing eventually led to a correct diagnosis, according to a Danish…

Young patients with late-onset Pompe disease (LOPD) who do not yet show disease symptoms should be regularly monitored for timely identification of symptoms so that treatment can be started early, a study suggested. Current diagnostic procedures enable early diagnosis of LOPD even in pre-symptomatic stages, said the researchers, who…

Many adults with late-onset Pompe disease (LOPD) see their own health status as declining over time, with difficulty swallowing and speaking, and scoliosis (sideways curvature of the spine) being burdensome symptoms for those on enzyme replacement treatment (ERT) for more than 15 years, a survey study has found.