News

Treatment with the experimental protein replacement therapy PTR-01 promoted wound healing and decreased pain in people with recessive dystrophic epidermolysis bullosa (RDEB), new results from a Phase 2 clinical trial show. The findings were presented by BridgeBio Pharma and its affiliate, Phoenix Tissue Repair, the therapy’s developer, at…

Tetra Bio-Pharma’s investigational cannabinoid cream PPP004 (THC-CBD) has been granted orphan drug status by the European Medicines Agency (EMA) to treat epidermolysis bullosa. This follows the orphan drug designation granted to PPP004 by the U.S. Food and Drug Administration (FDA) for the same purpose in April 2020.

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…

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,…

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.

Vitamin D supplements are necessary to increase and normalize the vitamin’s levels in the blood of children with recessive dystrophic epidermolysis bullosa (RDEB), according to a single center study in the U.K. Also, the dose should increase with age and can be three times higher than that recommended for…

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…

The National Organization for Rare Disorders (NORD) has updated its State Report Card to make it more digitally friendly and added telehealth to its categories of rare disease policy issues in a nod to its increased use during the ongoing COVID-19 pandemic. NORD’s report card project began seven…

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…

Vyjuvek, a gene therapy gel (previously called B-VEC) by Krystal Biotech, safely and effectively improved wound healing in children and adults with recessive dystrophic epidermolysis bullosa (RDEB), according to data from a Phase 1/2 clinical trial. Importantly, resolved wounds remained closed for at least three months and up to eight…

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…