Horizon Therapeutics has launched its #RAREis Representation program aimed at increasing diversity, equity, and inclusion among patients with rare diseases. There are about 400 million people worldwide living with a rare disease; for many of them, access to diagnosis, care, and treatments can be challenging. Accessing better care depends on…
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Bionews, the publisher of this website, hosted a virtual panel discussion on Rare Disease Day 2022, taking a deeper dive into what it’s like to live with a rare disease, including conversations about advocacy, mental health, survivor’s guilt, treatment of minority patients, and more. The Monday event, “A…
Infection by the virus that causes COVID-19 led to mild-to-moderate symptoms in four people with late-onset Pompe disease (LOPD) and pulmonary involvement, despite the increased risk of severe complications in such cases, scientists reported. “COVID-19 infection can result in a benign course in some patients with LOPD. However, individuals with LOPD…
A rare disease puts an economic burden on the patients, families, and caregivers that it affects, and will no doubt be an integral part of discussions on Rare Disease Day 2022, which brings international awareness about the more than 300 million people living with rare disorders. Part of that…
The nonprofit RARE-X is creating an easily-accessible, centralized data hub for all rare disease patient data that can help researchers answer questions about existing disorders, discover new ones, and work toward finding treatments. It was spun out of the work that Nicole Boice, founder and chief engagement officer of…
The first healthy volunteers have been dosed in a Phase 1 clinical trial evaluating MZE001, Maze Therapeutics’ experimental oral therapy for Pompe disease. “The initiation of this study is a significant milestone for both Maze and the Pompe community as we advance into the clinic with a potentially…
It’s been nearly a year since the EveryLife Foundation for Rare Diseases released its expansive report finding the total economic burden of rare disorders in the U.S. to be nearly $1 trillion.
Long-term treatment with Nexviazyme (avalglucosidase alfa) safely and effectively improves lung function and walking ability in children and adults with late-onset Pompe disease (LOPD), according to nearly two years of data from the Phase 3 COMET trial. These findings, along with positive long-term results from the Phase 2…
Since 2008, Rare Disease Day — the last day of February — has brought together patients, caregivers, family members, friends, and advocates from around the world to raise awareness and improve equity for the more than 7,000 known rare diseases that affect more than 300 million people. In 2022, the…
Acceptable safety is being seen to date in four adults with late-onset Pompe disease (LOPD) given the one-time gene therapy  AT845 in the FORTIS Phase 1/2 trial, its developer, Astellas Gene Therapies, announced. Interim study data in these four enrolled patients, as of the Dec. 3 cutoff date, shows…