News

The U.S. Food and Drug Administration (FDA) has granted orphan drug designation to ATA-100, a one-time gene therapy being developed by Atamyo Therapeutics for a specific form of limb-girdle muscular dystrophy (LGMD) called 2I or R9 (LGMD2I/R9). In Europe, the therapy also was named an orphan drug by…

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 Muscular Dystrophy Association (MDA) has launched its 40th annual MDA Shamrocks fundraising campaign — one of the largest St. Patrick’s Day fundraisers in the U.S. — to raise money and to increase awareness of muscular dystrophy (MD) and related neuromuscular disorders. Throughout February and March, thousands…

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…

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.

Continued use of corticosteroids beyond the year of losing an ability to walk can delay declines in lung function in boys with Duchenne muscular dystrophy (DMD), an analysis of MD STARnet data suggested. In comparison, patients who never used corticosteroids or who discontinued treatment within one year of losing ambulation…

The Muscular Dystrophy Association (MDA) has announced the schedule for the 2022 MDA Clinical & Scientific Conference, being held March 13-16, both via live stream and in person at the Gaylord Opryland Resort and Convention Center in Nashville, Tennessee. The event, to be covered by Muscular Dystrophy…

Heart problems can progress quickly in people with myotonic dystrophy type 2 (MD2) or facioscapulohumeral muscular dystrophy type 1 (FSHD1), even in those showing no symptoms of cardiac disease, a study reported. “MD2 and FSHD1 patients should be carefully followed-up to identify early development of remodeling and potential risks for the development…

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…

Significantly higher levels of sphingolipids — a type of fatty molecule involved in inflammation, scarring, and cell death — are evident in the muscles of people with Duchenne muscular dystrophy and a DMD mouse model than in those of their healthy counterparts, a study shows. Notably, suppressing sphingolipid production in…