News

A distinct set of bacteria colonizes the skin in and around wounds in people with dystrophic epidermolysis bullosa (DEB), according to a new study. The finding suggests that these patients may benefit from therapies that specifically target those bacteria and that encourage the growth of non wound-associated bacteria instead.

Elongate, a charity-focused cryptocurrency token, donated $150,000 to the EB Research Partnership (EBRP) #CryptoForCures Fund, which seeks to advance research to cure epidermolysis bullosa (EB) and other rare diseases.  With a goal of…

People of all ages with epidermolysis bullosa (EB) are invited to have their “mini wishes” — for things from iPads to concert tickets to birthday parties — granted by the Smile Fund Program. The Smile Fund program, created by the Dystrophic Epidermolysis Bullosa Research Association of America, known as…

Topical administration of the antibiotic gentamicin to the eye restored the production of a key skin health protein called laminin 332 while rapidly lessening eye lesions in a woman with junctional epidermolysis bullosa (JEB), a study reports. The study, “Topical gentamicin ointment induces LAMB3 nonsense mutation…

InMed Pharmaceuticals has submitted applications to regulatory authorities in Austria, Israel, and Serbia, seeking clearance to begin clinical testing of its investigational cannabinol cream INM-755 in people with epidermolysis bullosa (EB). Similar applications to authorities in France, Germany, Greece, and Italy are expected in the coming weeks.

The first patient has been dosed in a Phase 2 trial investigating rigosertib as a treatment for cases of recessive dystrophic epidermolysis bullosa (RDEB) involving an aggressive skin cancer called squamous cell carcinoma (SCC). RDEB patients are at high risk of developing SCC. “We are pleased with the…

More than half of the people with rare diseases and their caregivers, asked in a survey, were undecided or less than willing to be vaccinated for COVID-19 if a vaccine was approved under emergency use authorization instead of the routine process, the EveryLife Foundation for Rare Disease reports. These findings…

Krystal Biotech announced the full enrollment of a pivotal Phase 3 clinical trial of its topical gene therapy B-VEC (beremagene geperpavec) as a skin wound treatment for people with dystrophic epidermolysis bullosa (DEB). Top-line results on the 31 patients in the randomized GEM-3 trial (NCT04491604), a mix of children…

The EveryLife Foundation for Rare Diseases is accepting applications for a scholarship program that aims to help adults with a rare disease pursue personal goals through training and education. For a second year, the #RAREis Scholarship Fund — supported by Horizon Therapeutics – will award 35 one-time scholarships, each…

Amryt Pharma has completed its rolling submission of an application to the U.S. Food and Drug Administration seeking the approval of Filsuvez (Oleogel-S10), a topical gel to heal skin wounds in people with junctional (JEB) and dystrophic epidermolysis bullosa (DEB). The new drug application (NDA) includes a request for priority review, which can…

As anyone affected by a rare disease knows, treating the illness while trying to go about everyday life is an expensive undertaking.  But exactly how expensive — in terms of direct and indirect costs across rare disease populations — might still come as a surprise: almost…

Skin-derived stem cells producing the ABCB5 protein outperformed those derived from bone marrow at migrating toward and integrating into wounds associated with recessive dystrophic epidermolysis bullosa (RDEB), a study reports. These cells also show a less pro-inflammatory potential, and their ability to modify the immune response may make them…