News

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…

A 13-year-old boy with recessive dystrophic epidermolysis bullosa (RDEB) had his skin lesions eased after surgeons transplanted a skin graft grown from his back, according to a case study report. The study, “A case of recessive dystrophic epidermolysis bullosa treated with a cultured epidermal autograft,” was published in…

This month’s Plunge for Elodie will be a virtual event for a first time, with participants worldwide encouraged to plunge into freezing waters at their respective locations to raise funds in support of new therapies for epidermolysis bullosa (EB). …

Many diseases have their own awareness color — breast cancer is pink, muscular dystrophy is green, and AIDS is red, for example — but what’s the significance of pink, green, blue, and purple lights side-by-side? These are the colors most often used to represent Rare Disease Day. This…

Children with epidermolysis bullosa (EB) who accept their condition and emotionally detach themselves from it tend to have a better quality of life than children who are very emotional and use other strategies to cope with their disease, a Dutch study has found. Likewise, when the parents of these…

Diagnosed with sickle cell disease as a 6-month-old, Tristan Lee has faced a lot of challenges over his 37 years of life. But from a young age, he also learned how to turn those trials into triumphs. At age 9, a stroke due to his disease left him paralyzed…

When injected into the bloodstream, mesenchymal stem cells (MSCs) — cells that can grow into different cell types and have potent regeneration properties — can temporarily reduce pain, skin itching and blistering, and improve the quality of life of children and adults with recessive dystrophic epidermolysis bullosa…

Rare Disease Day at NIH, organized by the National Institutes of Health (NIH) and taking place on March 1, will feature panel discussions, patient stories, research updates, TED-style talks, and a presentation by a Nobel laureate recently recognized for her work on a gene editing tool. The free, virtual…