News

A potential gene therapy for dystrophic epidermolysis bullosa (DEB) known as AP103 received a positive opinion from the Committee for Orphan Medicinal Products (COMP) — an arm of the European Medicines Agency — on a request for orphan drug designation. The European Commission typically grants this…

Filsuvez, a topical formulation being developed by Amryt Pharma, significantly improved wound closure in people with epidermolysis bullosa (EB) taking part in a Phase 3 clinical trial. According to Amryt, EASE (NCT03068780) is the first Phase 3 study to show a statistically significant increase in speed…

The immunotherapy Libtayo (cemiplimab-rwlc) may be a promising treatment for the skin cancers that sometimes appear in people with recessive dystrophic epidermolysis bullosa (RDEB) as a result of chronic wounds, a case report shows. The study, “Induced Remission of Metastatic Squamous Cell Carcinoma with an…

Transplanting skin grafts from healthy donors can be a safe and effective way of treating chronic wounds in people with recessive dystrophic epidermolysis bullosa, a small clinical trial shows. But to create immune tolerance and prevent the graft from being rejected, patients first need to receive a…

Same But Different, a U.K. nonprofit that uses the arts to bring communities together, is holding a calendar photography competition to raise awareness for rare diseases. Under the theme “A Glimmer of Hope,” the competition is a means to “visually express the hope that exists for people affected by…

An analysis of the control group from the ESSENCE Phase 3 clinical trial, which tested the topical cream SD-101 in people with epidermolysis bullosa (EB), found overall improvements in wound closure and less pain over a three-month period. The unexpectedly high response rate…

Raremark, an online rare disease patient community, has launched a digital platform called Xperiome, aimed at streamlining the search for new medicines for rare disorders and incorporating more patient input into research. The goal is to help the pharmaceutical industry deliver innovative new therapies faster and smarter, the…

Most people with epidermolysis bullosa (EB) want to participate in clinical research for potential new therapies, but find travel distances to trial sites and the risk of treatment side effects to be major challenges, a survey in Austria has found. The study, “Profiling trial burden and…

The EveryLife Foundation for Rare Diseases has launched a scholarship fund in the U.S. to support individuals with rare disorders who are pursuing personal goals through training and education. The initial phase of the five-year, $1-million #RAREis Scholarship Fund will include 32 scholarships — each totaling $5,000 —…

When the COVID-19 pandemic forced the postponement of a rare disease film festival originally slated for May, its organizers set out to find a new way to bring the films to an audience.  Co-founders Daniel DeFabio and Bo Bigelow, who are both fathers of children with…

Scientists have identified two new variants in the COL7A1 gene associated with recessive dystrophic epidermolysis bullosa (RDEB) in a three-year-old Chinese girl. The findings expand the spectrum of known mutations causing the disease and also highlight the usefulness of two methods of genetic analyses — clinical exome…

Krystal Biotech has launched a pivotal Phase 3 clinical trial to investigate the topical gene therapy B-VEC (beremagene geperpavec) as a treatment for skin wounds in people with dystrophic epidermolysis bullosa (DEB). The GEM-3 trial (NCT04491604) is already recruiting participants with DEB at four sites in…