The U.S. Food and Drug Administration (FDA) has rejected an application seeking approval of Filsuvez (Oleogel-S10) for treating skin wounds in people with junctional (JEB) and dystrophic epidermolysis bullosa (DEB). In its complete response letter to Amryt Pharma, the therapy’s developer, the FDA stated that the…
A rare disease puts an economic burden on the patients, families, and caregivers that it affects, and will no doubt be an integral part of discussions on Rare Disease Day 2022, which brings international awareness about the more than 300 million people living with rare disorders. Part of that…
At-home inhalation of nitrous oxide, a colorless gas commonly used for sedation, may help reduce pain during wound dressings in patients with severe recessive dystrophic epidermolysis bullosa (DEB), a case report shows. For a 28-year-old man in Italy with spontaneous and frequent blisters due to severe DEB, “the beneficial…
The nonprofit RARE-X is creating an easily-accessible, centralized data hub for all rare disease patient data that can help researchers answer questions about existing disorders, discover new ones, and work toward finding treatments. It was spun out of the work that Nicole Boice, founder and chief engagement officer of…
Researchers have identified three cases of epidermolysis bullosa acquisita (EBA) in children, which they described in a recent case series. All three children showed clinical features of the disease, including blisters, scarring, and small cysts on the skin, called milia, and a diagnosis was confirmed with…
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…
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