News

The prevalence of late-onset Pompe disease (LOPD) in people across the U.S. and in Montreal, Canada, who lack an official diagnosis but have its characteristic neuromuscular symptoms — including neck and proximal muscle weakness or elevated creatine kinase levels (a marker of muscle damage)…

Fatigue, pain, muscle weakness, and breathing difficulties are the most common and highly disabling symptoms of late-onset Pompe disease (LOPD), according to a study that combined data collected from published literature, expert clinician interviews, and patient interviews. In addition, patients reported that mobility problems had the most impact on…

Flying can be an ordeal for many people with disabilities who rely on wheelchairs to get from point A to point B. Sometimes disabled travelers get to their destination only to realize their wheelchair or scooter is broken or missing. In 2019, the year after airlines were required to release…

Training with continuous positive airway pressure therapy, known as CPAP, may help to normalize speech abnormalities in children with Pompe disease, a small pilot study shows. Certain outcomes, including the speech intelligibility score (SIS), “were significantly improved” over the course of the six-month study, but as two of the…

Global Genes has partnered with the Rare Disease Diversity Coalition (RDDC) to advance health equity for rare disease patients and caregivers in underrepresented communities of color. “For rare disease patients, there are many challenges — and for people of color with a rare disease, these challenges are compounded…

The Rare Disease Diversity Coalition (RDDC) awarded $600,000 in grants to ease the disparities faced by rare disease patients of color. These Impact Rare Disease Solution grants will go five RDDC steering committee working groups, which aim to identify problems for rare disease communities and advocate for solutions. The five…

The U.S. Food and Drug Administration (FDA) is reviewing applications from Amicus Therapeutics asking for the approval of AT-GAA as a treatment for late-onset Pompe disease (LOPD). Amicus initiated a rolling application for AT-GAA late last year, which allowed the company to submit portions of its application as…

A crowdfunding campaign aims to raise $45,000 to support “Rare,” a documentary film featuring the struggles and achievements of people living with rare diseases and their families. Sweis Entertainment and Digital Cave Media launched the campaign — allowing filmmakers to finish producing and to release the documentary — on Kickstarter.

A new U.S. initiative called Rare Disease Cures Accelerator–Data and Analytics Platform — dubbed RDCA–DAP — aims to accelerate treatment innovation across rare diseases by sharing existing patient data and promoting the standardization of new data collection. Launched during a virtual workshop in September, the U.S. Food and Drug…

A new enzyme replacement therapy (ERT) targeting specific cell types boosts the delivery of acid alpha-glucosidase (GAA) — the enzyme missing or defective in Pompe disease patients — to muscle and heart cells, a study shows. Compared to standard ERT, the targeted approach by Regeneron Pharmaceuticals normalized the…