News

Two new mutations in the COL7A1 gene, one inherited from each parent, were identified as the cause of recessive dystrophic epidermolysis bullosa (DEB) in a 10-year-old boy, a case study reported. Further functional analyses suggested that each mutation had only mild effects — supported by the fact that his…

Nonprofits, scientists, governmental organizations, and the rare disease drug development industry have long cited 7,000 as the average number of rare diseases in the world. But a new analysis shows there are as many as 10,867 rare diseases globally. And that…

People with dystrophic epidermolysis bullosa (DEB) saw the total surface of their wounds significantly reduced after being treated with Filsuvez (Oleogel-S10) for more than a year, new data from the EASE clinical trial show. After 15 months, these patients experienced sustained reductions of 53%, on average, in wound…

Krystal Biotech is seeking U.S. Food and Drug Administration (FDA) approval of Vyjuvek (previously called B-VEC), its topical gene therapy for people with dystrophic epidermolysis bullosa (DEB). The request was made in the form of a biologics license application or BLA — a type of marketing approval —…

The European Commission has approved Amryt Pharma’s Filsuvez (Oleogel-S10) for the treatment of skin wounds in adults and children, ages 6 months and older, with dystrophic epidermolysis bullosa (DEB) or junctional epidermolysis bullosa (JEB). The decision makes Filsuvez, a topical gel, the first-ever therapy approved for EB wounds.

The National Organization for Rare Disorders’ (NORD) “Living Rare, Living Stronger Patient and Family Forum” is back in person on June 26 for a day of learning and networking in Cleveland, Ohio. The event, which brings together the rare disease community, will take place at the InterContinental Cleveland Conference…

Skin tumors called cutaneous squamous cell carcinomas (cSCCs) are common in people with certain types of epidermolysis bullosa (EB), and their surgical management is often complex, a study highlights. Its researchers noted that regular monitoring to enable early diagnosis is key to proper management of these tumors. “Our…

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.