News

Nexviazyme Approved in Canada as Next-gen ERT for Late-onset Pompe

Nexviazyme (avalglucosidase alfa), a next-generation enzyme replacement therapy, has been approved by Health Canada for people with late-onset Pompe disease ages 6 months and older. “The Health Canada approval of Nexviazyme is an important milestone for Canadian Pompe patients and may represent a new standard of care,” Mark…

Fatigue Called Most Disabling LOPD Symptom in Patient Interviews

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…

CPAP Training May Help Children Improve Speech, Small Study Shows

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, Diversity Coalition Team Up to Advance Health Equity

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…

Rare Disease Diversity Coalition Awards $600K to Combat Disparities

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…

FDA to Decide on AT-GAA for Late-onset Pompe Around Mid-2022

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…

‘Rare’ Documentary in Kickstarter Campaign to Raise $45K by Oct. 28

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.