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The antibiotic gentamicin, given via an infusion into the bloodstream, promoted wound closure and increased the production of laminin 332 in five children with junctional epidermolysis bullosa (JEB) in a small clinical trial. Its researchers called for further study into this treatment as a potential long-term therapy for JEB. Results…
Healthcare providers involved in diagnosing and treating rare diseases believe that increased physician education and collaboration with specialized facilities will have the greatest positive impact on treating these conditions over the next five years, according to results from a 2021 survey. Definitive Healthcare, a healthcare commercial intelligence company, conducted…
The pivotal Phase 3 VIITAL clinical trial of EB-101, Abeona Therapeutics’ experimental cell therapy for wound healing in people with recessive dystrophic epidermolysis bullosa (RDEB), has met its enrollment target. The company also announced that top-line results from the VIITAL trial (NCT04227106) are expected…
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…
An imbalance both of immune signaling proteins and mediators of the itch response was found in the bloodstream of people with epidermolysis bullosa (EB) — for whom itch is a common and debilitating disease symptom — a study discovered. Given the findings, therapies targeting these proteins may be a…
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…
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…
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 rejected an application seeking approval of Filsuvez (Oleogel-S10) for treating skin wounds in people with junctional (JEB) and dystrophic epidermolysis bullosa (DEB). In its complete response letter to Amryt Pharma, the therapy’s developer, the FDA stated that the…
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…
At-home inhalation of nitrous oxide, a colorless gas commonly used for sedation, may help reduce pain during wound dressings in patients with severe recessive dystrophic epidermolysis bullosa (DEB), a case report shows. For a 28-year-old man in Italy with spontaneous and frequent blisters due to severe DEB, “the beneficial…
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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