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A never-before-reported mutation in the KRT14 gene caused epidermolysis bullosa simplex (EBS) in a family in China. The new mutation was described in the case report, “Large intragenic deletion of KRT14 causes autosomal-dominant epidermolysis bullosa simplex with generalized hyperpigmentation,” published in the Journal of Dermatological Science.
Skin-derived stem cells enhanced wound closure in people with recessive dystrophic epidermolysis bullosa (RDEB), according to clinical trial data. The treatment reduced the occurrence of new wounds, extended the time that they recurred, and wounds that did not fully close got smaller. A larger clinical trial using a control…
Researchers in the U.K. used a gene editing tool to fix a common mutation causing recessive dystrophic epidermolysis bullosa (RDEB), enabling cells from a patient to restore production of type VII collagen (C7), a protein they lacked. With enough C7, the fixed cells were also able to rebuild the…
InMed Pharmaceuticals has completed enrollment for a Phase 2 trial testing INM-755, an investigational cannabinol cream, for people with epidermolysis bullosa (EB). “We look forward to the data read-out in the summer, so we can evaluate our strategic options and next steps,” Eric A. Adams, InMed’s president and CEO,…
Onconova Therapeutics and Pangea Biomed are teaming up to identify biomarkers that can help predict a response to the experimental cancer therapy rigosertib in people with recessive dystrophic epidermolysis bullosa (RDEB). Multiple clinical trials are underway to test rigosertib — developed by Onconova — as a potential treatment…
People with epidermolysis bullosa acquisita (EBA) are at a higher risk of developing other autoimmune disorders, certain types of cancers, and heart diseases, a study suggests. The findings also indicate that other autoimmune diseases as well as some infections may be risk factors for EBA. The study, “…
Gold weight implants were safely implanted under the eyelids of a woman with recessive dystrophic epidermolysis bullosa (RDEB), according to a recent report. Despite their limited effectiveness in reducing her difficulties completely closing her eyelids — a condition called lagophthalmos — the “safety and tolerability of the gold weight…
The 6th annual Plunge for Elodie is set to raise more than $2 million for epidermolysis bullosa (EB) research, EB Research Partnership (EBRP) has announced. The event, taking place from March 25 to April 2, invites supporters to plunge into freezing waters at one of the official…
Tofacitinib, a therapy approved for certain inflammatory diseases effectively controlled symptoms of epidermolysis bullosa acquisita (EBA) in a man with the disease. The case was described as a letter to the editor titled “Treatment of Recurrent Epidermolysis Bullosa Acquisita With Tofacitinib” in JAMA Dermatology. EBA is a…
A proof-of-concept trial evaluating the effects of Relief Therapeutics’ antimicrobial wound spray RLF-TD011 — formerly known as APR-TD011 — in people with epidermolysis bullosa (EB) has enrolled its first three patients, the company announced. RLF-TD011 is a highly pure form of hypochlorous acid, a chemical with broad-spectrum…
Airway involvement is a rare but burdensome and life-threatening manifestation of epidermolysis bullosa (EB) that requires prompt and proper management, according to a recent case report. Researchers in Saudi Arabia described four children with EB who were brought to their clinic showing involvement of their larynx, or voice box,…
New study findings point to neutrophils, a type of immune cells, as possible players in epidermolysis bullosa acquisita (EBA) — and to an enzyme in them as a potential therapeutic target for the autoimmune disease. Taking away that enzyme, called spleen tyrosine kinase or SYK, from neutrophils stopped EBA…
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