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…
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To help patients and families facing out-of-pocket medical costs, The Assistance Fund (TAF) has opened a new program for eligible individuals living with Pompe disease. The program assists with treatment-related copayments, health insurance premiums and incidental medical expenses related to the metabolic disorder that affects roughly one in every…
People with late-onset Pompe disease (LOPD) have lower dynamic diaphragm function and altered endurance and strength during inhalation, but they show some compensatory mechanisms to preserve air volume, according to a recent study. These findings, which were achieved using dynamic — rather than the standard, static — lung function…
Patients with Pompe disease also may exhibit motor neuronopathy (motor and nerve deficits due to neuron degeneration) in addition to the classical myopathy (muscle disease) features, a case study suggests. Researchers suggest that future studies also should focus on therapies that target the central nervous system, and that…
The Muscular Dystrophy Association is set to host the first Pompe disease Patient-Focused Drug Development (PFDD) meeting next year to inform therapy developers, regulators, and other stakeholders about the experiences of Pompe disease patients and caregivers, as well as their expectations for future treatments. Patients and family members interested…
With so much recent publicity surrounding gene therapy, it’s no surprise that the topic was a major focus of the recent 2019 NORD Rare Diseases & Orphan Products Breakthrough Summit. From diagnosis and clinical trial design to manufacturing, pricing strategies, and ethical concerns, gene therapy — both its high…
Despite skyrocketing healthcare costs, President Trump is committed to protecting the 30 million or so Americans with rare diseases and ensuring timely, affordable access to lifesaving treatments, the nation’s highest-ranking health official said. “We have to think about how our financing system can protect those with serious and rare illnesses.
A glance around the walls of Barry J. Byrne’s office reveals a lot about the pediatric cardiologist who runs the Powell Gene Therapy Center at University of Florida (UF). In one corner is an unusual painting by 9-year-old Will Barkowsky of Jacksonville, Fla. Will, the first boy with…
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, “…
Rare disease-themed videos glowed on a large screen before an audience of people in wheelchairs, with crutches, and bearing oxygen tanks this Nov. 9 and 10 in San Francisco. Disorder: The Rare Disease Film Festival strives to eventually host a film about every one of the nearly 7,000 rare…