debra of America launches registry to better understand EB

Goal is to get all electronic patient records together in one place

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by Mary Chapman |

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A new registry for those with epidermolysis bullosa (EB) and their families, from the patient advocacy organization debra of America, is aiming to help both them and scientists to better understand this group of rare skin disorders.

The ultimate goal, according to the nonprofit, is to develop new and better treatments.

debra of America, known simply as debra, is collaborating with the platform LunaDNA to launch the registry, designed as a tool for patients, clinicians, and researchers — particularly the organization’s therapy development partners.

“The culmination of this data collection will allow us to identify biomarkers and surrogate endpoints for drug development instead of the FDA (Food and Drug Administration) relying solely on full wound closure to determine if a therapeutic agent is effective,” Brett Kopelan, debra’s executive director and the father of a daughter with EB, said in a press release.

“These new data points will allow our drug development platform to take advantage of the accelerated approval pathway in the FDA, thereby getting drugs to treat EB to market faster than before.” Kopelan added.

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With the registry, patients can safely compile all of their electronic health records — most people with EB have a variety of healthcare providers — on one secure platform, giving their treating physicians immediate access to health records for optimal care.

Moreover, scientists can use patient-uploaded data to correlate genotypes with phenotypes for a more thorough understanding of what debra calls “the worst disease you’ve never heard of.”

Current therapies for EB focus on blister prevention and management of EB-caused wounds, depending on the type of epidermolysis bullosa. EB, which has an estimated prevalence of 500,000 people globally, causes the skin, and sometimes internal surfaces, to break and easily blister, leading to pain, discomfort, and other possible complications.

“Patient registries are an essential tool in understand rare disorders. They allow patients to be counted, even if they are not being seen regularly in a specialized center,” said Anna Bruckner, MD, co-director of the EB Clinic at the Children’s Hospital of Colorado.

“In addition, they can provide data about the natural history of a disorder and allow researchers to identify targets for therapeutic development,” added Bruckner, also a professor of dermatology at the University of Colorado Medical School.

Patient registries are an essential tool in understand rare disorders. They allow patients to be counted.

Under privacy laws in the U.S., researchers and treatment developers can not access a patient’s records without consent.

“By allowing the use of their health data, individuals with EB can contribute to developing real-world evidence about the natural history of EB, the impact of current treatments, and their unmet health needs, which will help future drug development,” Bruckner said.

Peter Marinkovich, MD, an associate professor of dermatology at Stanford University, said the new registry builds upon work begun with the first EB registry in 1986.

“Thirty years ago, the US Congress (through the lobbying efforts of debra of America) created the National EB Registry (NEBR) which extended EB research to a national scale. In the interval between when the NEBR ended in 2000 and now, a lot has changed,” said Marinkovich, who also serves as the director of the Stanford Bullous Disease Clinic.

“We have entered the computer age, and our technology has grown. Using these advances in technology, a new platform, LunaDNA, which debra is adopting, provides the opportunity to take this work started by the NEBR much further with the potential of reaching many more patients and providing much more information,” he added.

In related news, the 2023 debra Benefit — an annual event that raises funds for research and patient support — will take place Nov. 4 at the Georgia Aquarium, in Atlanta. Under the theme “Because the cost of doing nothing is too great,” the fundraiser will feature a casino night, dinner, and silent auction. Tickets range from $75 for children to $350 for couples.

Also, debra has just formed a partnership with Fearey, a public relations and creative agency. The partnership is meant to advance awareness, support and research initiatives for EB.

“Having a son diagnosed with epidermolysis bullosa, my team and I are honored to raise awareness about the life-changing work that debra does,” said Aaron Blank, CEO and president of Fearey, adding, “We have a profound understanding and commitment to the mission behind this partnership and look forward to helping broaden the awareness of this awful disease and those who suffer from it.”