Treatment with BBP-418 improved walking ability among people with limb-girdle muscular dystrophy type 2i (LGMD2i) in a Phase 2 clinical trial, early data show. “To date, people with LGMD2i have no approved disease-modifying treatment options. Many of these patients see their quality of life deteriorate rapidly and lose their…
Patient registries are a hot topic of rare disease research and many organizations are taking advantage of this resource by signing up their patient communities and connecting with researchers. Eric Sid, MD, program officer for the Office of Rare Diseases Research (ORDR), said it is difficult to estimate how…
Fulcrum Therapeutics plans to launch a Phase 3 trial of losmapimod, a potential oral treatment for facioscapulohumeral muscular dystrophy (FSHD), by June. The announcement of the trial, called REACH, follows clinically relevant benefits seen in the Phase 2b ReDUX4 trial (NCT04003974) and consultations with key regulators, including…
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…
Santhera Pharmaceuticals has entered into an agreement with SEAL Therapeutics, a spin-off of the Biozentrum of the University of Basel, that is expected to further develop a potential gene therapy for LAMA2-deficient congenital muscular dystrophy (LAMA2 MD). The new company’s gene therapy technology builds on previous research…
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…
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…
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