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It’s been nearly a year since the EveryLife Foundation for Rare Diseases released its expansive report finding the total economic burden of rare disorders in the U.S. to be nearly $1 trillion.
Transplanting a patient’s own genetically corrected skin grafts safely and effectively treated skin loss and ulcers affecting 80% of the body in a boy with a life-threatening form of generalized junctional epidermolysis bullosa (JEB), a study shows. Notably, these benefits were sustained for at least five years, highlighting that this…
Since 2008, Rare Disease Day — the last day of February — has brought together patients, caregivers, family members, friends, and advocates from around the world to raise awareness and improve equity for the more than 7,000 known rare diseases that affect more than 300 million people. In 2022, the…
The European Medicines Agency (EMA) is seeking the opinion of independent epidermolysis bullosa (EB) experts and patients before issuing its recommendation on the potential approval of Amryt Pharma’s topical gel Filsuvez (Oleogel-S10) to treat skin wounds in people with junctional EB (JEB) and dystrophic EB (DEB). Given…
Treatment with ointment containing a low dose of calcipotriol — an analog (similar compound) of vitamin D3 — helped to speed wound closure and reduce itching in people with dystrophic epidermolysis bullosa (DEB) in a clinical trial. “While corroboration of our results by large-scaled studies is pending, our preliminary…
More than 2,000 transcripts — RNA molecules that derive from DNA and carry instructions for protein production — were found to be differentially produced between intact skin and wounds in people with recessive dystrophic epidermolysis bullosa (RDEB). Based on these findings, computer simulations identified the prescription medication methotrexate…
Pain, but not wound size, significantly affects a person’s perception of disease severity with dominant dystrophic epidermolysis bullosa (DEB), a study reports. Chronic open wounds, difficulty swallowing or walking, and anal narrowing also plays into patients’ perceptions of their disease’s severity. The study, “Patient-reported outcomes and…
A gene-edited skin cell therapy — called Spray-On Skin cells — promotes skin healing by correcting the mutation associated with recessive dystrophic epidermolysis bullosa (DEB), preclinical research from Avita Medical shows. “These data, while early, demonstrate promise … for treatment of epidermolysis bullosa with gene-corrected skin cells,” Mike Perry,…
The “Venture into Cures” virtual event raised more than $2.4 million to benefit the EB Research Partnership (EBRP), an organization dedicated to funding research into treatments and ultimately a cure for epidermolysis bullosa (EB). This second annual event, hosted by actor Tom Holland on Nov. 18, featured…
Treatment with Vyjuvek (previously called B-VEC) — a topical gene therapy for dystrophic epidermolysis bullosa (DEB) — improved wound healing with good tolerability over six months, according to top-line results of the Phase 3 GEM-3 trial. “We are thrilled to announce positive results from our pivotal GEM-3 trial of VYJUVEK…
The U.S. Food and Drug Administration (FDA) has extended by three months its review of Amryt Pharma’s application seeking approval of Filsuvez (Oleogel-S10), a topical gel to treat skin wounds in people epidermolysis bullosa (EB). A regulatory decision is now expected on Feb. 28 — it previously was set…
Actor Tom Holland of “Spiderman” fame is hosting a live virtual event, with celebrity appearances and performances, to raise money to benefit the EB Research Partnership, which funds research for a cure and aims to increase awareness of epidermolysis bullosa (EB), according to a press release. Eddie…
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