The ‘Butterflies’

The slightest touch of a butterfly’s wing can cause significant long-term damage. For many with a rare skin disease called epidermolysis bullosa, their skin carries a similar fate.

Holding a newborn to console its cries.

Taking a child by the hands and swinging it around.

Sliding down a waterslide on a hot summer’s day.

Holding hands with the one you love.

Learning to drive for the first time.

These are all moments we cherish, however, for those with the varying forms of a rare genetic skin disorder called epidermolysis bullosa, they often go unexperienced.

Due to a genetic mutation, the outer layer of the skin known as the epidermis is not attached properly to the lower layer, called the dermis.

Thus with the slightest of friction, the outer layer is ripped or readily damaged causing open wounds or blisters. If blisters do form, each one has to be properly drained and then dressed with bandages.

Dr. Robinson, Head of Research at DEBRA International told CheckOrphan, “Even eating, chewing and swallowing damages their skin in the mouth and throat.”

Research Forefront

For nearly 35 years, the many national organizations of DEBRA have funded research and worked with government organizations to ensure there are more grants for EB-related research.

Dr. Robinson singled out a unique aspect to DEBRA’s approach to funding research, “It is essential to engage patients from the beginning to explain what needs to be investigated from a research perspective.”

“We use the patient community to look at research and clinical trial proposals so we have feedback about what is important for the patient.”

“When running clinical trials it is important to work with physicians that have worked on a long time basis with EB patients, because it instills confidence in participation.”

Many times when it comes to running a clinical trial, companies turn to CRO to manage and execute the trial. Dr. Robinson cautioned, “CROs often don’t understand that relationship so it is important for the company to be engaged with the trial site process.”

A New Horizon of Hope

Going forward, DEBRA will focus on supporting a range of therapies, because of the varying forms of EB.

“A decade ago we had grafting gene therapy with junctional epidermolysis bullosa and now, after 10 years waiting, and nothing in routine therapeutic use.”

“There are early clinical and late stage trials now so there is hope and companies are working on a variety of EBs and attacking the mechanisms of action in different ways.”

“We are also funding a study with collagen 7 for recessive dystrophic epidermolysis bullosa, a type of protein therapy where collagen 7 recombinant is injected in the dermis and it assembles correctly into the collagen fibers.”

“Stem cells are being looked at for all disease forms and are progressing to preclinical and the goal would be to use keratinocytes and fibroblasts to produce the correct amounts of proteins.”

“Our research grants will go more to researchers who are looking at possible drug therapies.”

There are about 50 organizations under the DEBRA international umbrella that DEBRA International helps with peer review for research grants and then the national organizations decide on who they want to fund and the amount.

As the research progresses to the state where clinical trials will be ready, Dr. Robinson explained, “We are working on co-funding clinical trials and although it will be difficult to manage expectations of hope, we will move forward and ensure patients are part of the process for the entire journey.”


With many clinical trials, companies have an advisory board of leading physicians. DEBRA encourages companies to continue with that trend, however, they are setting the example by establishing a patient panel to review clinical trials.

However despite these boards and committees Dr. Robinson warns, “There has been too much focus on numbers and not the people.”

This can happen in many settings, whether it is with researchers, doctors or companies.

With reference to companies, Dr. Robinson added, “Often they focus on physicians to find patients and then come back to us.”

However, highlighting a more efficacious approach she added, “Patients are the best advocates for moving the process forward. They understand and live with their disease and are the people you want to help, so it is only natural that you want to engage them to understand how to best treat their disease.”

“By engaging patients we can avoid oversights. For example, a company might be considering a tablet form for the delivery of a treatment, but a patient panel would ensure that did not occur, because of the damage a tablet can cause to many people with EB.”

“Treatments which might single out the patient and make them feel even more alienated from society are good examples where a patient panel is needed.”

Dr. Robinson noted that the patient panel is something that DEBRA International will be developing further. One of the tasks of the panel will be to develop clinical guidelines on best practices to manage symptoms of the various forms of EB.

Also looking to the future, Dr. Robinson emphasized how cooperative may companies are and that DEBRA International is working with them to establish an industry partner panel that can also work together with the other existing and evolving DEBRA panels.

“The goal of the industry partner panel is to help companies who are starting trials to have a mutual exchange of information.” Dr. Robinson added that DEBRA could further incentivize corporate participation with a national history study to find and validate clinical endpoints as markers for clinical trial.

“Generally speaking, we have a long-term vision of ensuring all stakeholders collaborate with our constant goal of improving tomorrow for the patient.”