First epidermolysis bullosa simplex-specific assessment tool developed

Epidermolysis bullosa simplex. Photo by James Heilman, MD, via Wikimedia Commons

Researchers have developed the first disease-specific clinical tool to assess the severity of epidermolysis bullosa simplex (EBS), according to a study recently published in JAMA Dermatology.

EBS is the most common subtype of epidermolysis bullosa. Despite its prevalence, there is no U.S. Food and Drug Administration-approved treatment for EBS, and clinicians have lacked a standardized method for measuring disease severity, until now.

“We don’t have therapies for these patients, so studies like this are about finding ways to improve quality of life and find treatments in the future,” said study co-author Amy Paller, MS, MD, in a press release. “Previously, drug companies conducting clinical trials had no specific tool to measure this.” Dr. Paller is the chair and Walter J. Hamlin Professor of Dermatology at the Feinberg School of Medicine at Northwestern University in Evanston, Ill.

In the current study, investigators from medical sites across the U.S. analyzed a repository of 130 clinical photographs from 80 genetically confirmed EBS patients, capturing a range of disease severities across five anatomical regions. Nine board-certified dermatologists scored the images using a 5-point scale, assessing features such as blistering, erosions and keratoderma.

They then compared the scales and found there was strong agreement among the scoring dermatologists. Using this consensus, the investigators then developed the Epidermolysis Bullosa Simplex Disease Activity and Response Tool (EBSdart), a scale designed specifically to evaluate the core features of EBS. 

The new tool will provide a reliable, disease-specific severity scale, enabling more accurate monitoring of disease progression and response to future therapies, Dr. Paller said.

“Having this standardized tool imparts greater accuracy to the results of clinical trials related to EBS. We hope that our results using this new tool will reflect more meaningful outcomes and a faster track towards FDA approval and commercialization of treatments,” Dr. Paller said.

Building off the new scoring system, Dr. Paller and her collaborators are conducting multiple clinical trials using the tool, which they hope will accelerate the development of new treatments for the condition.

The study was supported by a Pediatric Dermatology Research Alliance fellowship.