Forest Ray PhD,  —

More attention should be given to evaluating the gastrointestinal symptoms of individuals with late-onset Pompe disease (LOPD) because they cause a significant disease burden, according to a recent study. The results of that study highlight the need for more effective smooth muscle-targeted therapies in LOPD, as current treatments often…

The type of genetic mutation carried by a Pompe disease patient appears to predict whether the disease is infantile- or late-onset, according to a study. However, newly diagnosed patients should still undergo complete genetic, cardiac, and neurological tests, scientists stated. The study, “Phenotypic implications of pathogenic…

Spark Therapeutics has dosed the first patient in the Phase 1/2 RESOLUTE clinical trial of SPK-3006, an experimental gene therapy for people with late-onset Pompe disease (LOPD). “Dosing the first participant in the Phase 1/2 RESOLUTE trial of investigational SPK-3006 for late-onset Pompe disease is an important milestone and…

The two COVID-19 vaccines that recently received emergency approval from the U.S. and other worldwide regulatory agencies are expected to pose little risk to the rare disease community, including to patients with compromised immune systems or those participating in gene therapy studies. That was the message of a recent…

Same But Different, a U.K. nonprofit that uses the arts to bring communities together, is holding a calendar photography competition to raise awareness for rare diseases. Under the theme “A Glimmer of Hope,” the competition is a means to “visually express the hope that exists for people affected by…

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…

Raremark, an online rare disease patient community, has launched a digital platform called Xperiome, aimed at streamlining the search for new medicines for rare disorders and incorporating more patient input into research. The goal is to help the pharmaceutical industry deliver innovative new therapies faster and smarter, the…

Combining exercise training with a high-protein diet improves exercise tolerance, pulmonary function, and quality of life among late-onset Pompe disease (LOPD) patients taking Lumizyme (alglucosidase alfa) for years, a small study found. The study, “Exercise training alone or in combination with high-protein diet in patients…

Treatment with Myozyme (alglucosidase alfa, marketed as Lumizyme in the U.S.) improves walking ability and may stabilize respiratory function in adults with Pompe disease during the first three years of treatment, according to a recent study. However, factors such as aging may explain the loss of benefits observed at later stages. The…

The EveryLife Foundation for Rare Diseases has launched a nationwide National Burden of Rare Disease Survey to measure the full implications, economic and social, of living with rare disease in the United States. People with rare diseases know that the impacts of such conditions extend beyond just medical…