News

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…

Researchers have identified three cases of epidermolysis bullosa acquisita (EBA) in children, which they described in a recent case series. All three children showed clinical features of the disease, including blisters, scarring, and small cysts on the skin, called milia, and a diagnosis was confirmed with…

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.