late-onset Pompe disease

Late-onset Pompe disease can occur during a child’s largest phase of growth and development. This can have a major impact on how well the body develops, including the occurrence of scoliosis. What is scoliosis? Scoliosis is a sideways curve in the spine, and is often related to neuromuscular…

Amicus Therapeutics remains on track to announce top-line data from PROPEL — a Phase 3 trial of AT-GAA for the treatment of late-onset Pompe disease — in the first half of 2021, and plans to seek regulatory clearance to start clinical studies of a gene therapy for…

The Muscular Dystrophy Association (MDA) held its first externally led Patient-Focused Drug Development (PFDD) meeting on Pompe disease earlier this week.  The July 13 virtual PFDD meeting allowed Pompe patients and…

Measuring the urinary levels of a particular sugar molecule called tetraglucose (Glc4) could be useful for diagnosing Pompe disease, a study from France suggests. The study, “Urine glucose tetrasaccharide: A good biomarker for glycogenoses type II and III? A study of the French cohort,” was published…

Increased awareness of late-onset Pompe disease (LOPD) is crucial to shorten the delay in diagnosis and start appropriate treatment as early as possible, a study says. The study, “Late-onset Pompe disease (LOPD) in Belgium: clinical characteristics and outcome measures,” was published in the…

Two novel mutations in the GAA gene were linked with cerebral stroke in two siblings with late-onset Pompe disease (PD), a study from China reports. The study, “GAA compound heterozygous mutations associated with autophagic impairment cause cerebral infarction in Pompe disease,” was published in the journal…

Ultrasound could help evaluate diaphragm and respiratory function in people with late-onset Pompe disease (LOPD), a study suggests. The study, “Ultrasound assessment of diaphragm function in patients with late-onset Pompe disease,” was published in the journal Neurological Sciences. LOPD is a genetic disorder…

Amicus Therapeutics has completed and exceeded patient enrollment for its Phase 3 PROPEL trial of AT-GAA, its investigational chaperone therapy for the treatment of Pompe disease. The company also remains on track to file a biologics license application…

People with late-onset Pompe disease (LOPD) can develop damage to the nerves that run throughout their body, a recent case report about four patients shows. Such nerve damage in LOPD patients can worsen disability and needs special attention and care, such as physiotherapy. The report with those findings, “…

People with Pompe disease symptoms who are not directly referred to expert centers for a diagnostic work-up tend to take much longer to be properly diagnosed with this rare genetic disorder, a study shows. Researchers say facilitating direct referral might help with early diagnosis of Pompe. The study,…