News

Three Cases of Severe Lung Involvement in Children With JEB

Three small children with junctional epidermolysis bullosa (JEB) developed extensive damage to the airways and lungs, which led to breathing problems that proved fatal, according to a U.S. report. The report, “Junctional epidermolysis bullosa with extensive lung involvement in three patients with a LAMB3 mutation,” was published in…

Organizations Rally to Help Ukrainian Rare Disease Patients

A Russian military plane crash near Tetiana Zamorska’s home in Kyiv, Ukraine, was a sign that it was time for her and her family to leave. The treacherous, 34-hour pilgrimage that ultimately brought the group of eight by car to temporary accommodations in neighboring Poland last month was physically and emotionally difficult,…

Panel Supports Filsuvez Gel Approval in Europe for DEB, JEB

The Committee for Medicinal Products for Human Use (CHMP) has issued a positive opinion that recommends the approval in Europe of Filsuvez (Oleogel-S10), a topical gel to treat skin wounds in people with dystrophic epidermolysis bullosa (DEB) or junctional epidermolysis bullosa (JEB), ages 6 months and older.

Europe Awaits Proposed New Framework for Sharing Health Data

The European Commission is expected to propose a new governing framework for health data next month, called the European Health Data Space (EHDS), with the aim of connecting national health systems to facilitate secure and efficient transfer of data across systems in different European nations. The move is expected to…

Plant-based Kaempferol May Help in Wound Healing in DEB: Cell Study

Plant-based kaempferol — a compound with antioxidant and anti-inflammatory properties — enhanced the production in skin cells of C7, the protein that’s missing in people with dystrophic epidermolysis bullosa (DEB), a study demonstrated. The findings suggest that kaempferol may provide therapeutic benefits to DEB patients. As such, the…

Increased Education Crucial to Improving Rare Disease Care, Survey Finds

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…

Phase 3 Trial of EB-101 for RDEB Meets Target Enrollment

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…