DEBRA International Congress

30 November 2017

I recently attended the DEBRA International Congress on behalf of NZORD. The quality of speakers was exceptional, the science was mind-blowing and the courage of people who shared their individual journeys was inspiring. It was packed with information on all the global efforts to tackle Epidermolysis Bullosa (EB) and offered networking, collaboration and connection opportunities to enhance the mission of providing the best support, offering a standardised level of care and ultimately finding a cure.

EB is a rare genetic disorder involving the skin and skin-like tissues. People with EB have extremely fragile skin leading to constant blisters that tear, causing wounds which are difficult to heal. These blisters and wounds are caused by changes to proteins that normally help hold the layers of skin together and this genetic fault then makes the skin structure weak and vulnerable to any friction. The blisters can form anywhere including the lining of the mouth.

There are four types of EB which include EBS (EB Simplex), JEB (Junctional EB), DEB (Dystrophic EB includes dominant and recessive forms) and Kindler Syndrome.

EB is a chronic disorder that can worsen with age, is not contagious, is estimated to affect 500,000 people worldwide, and can physically and emotionally impact daily living. Sometimes the genetic mutation that leads to EB can form spontaneously or can be inherited from a parent who may or may not be aware that they carry this mutation.

DEBRA congress offered a forum to share current ideas, learnings and challenges within the world of research and across all the DEBRA centres from around the world to collaborate towards the same end goal - to improve the lives of those with EB and search for a cure. DEBRA international offers a worldwide network of national groups from around the world with access to clinical guidelines for EB to standardise care, and ensure clinical care is guided by science and expert opinion.

An important point raised by Humphrey Hanley was to not forget about the quality of life of people currently living with EB, as this is just as important as the search to find a cure. The practical considerations of three hours or more of wound dressings per day, the need for pain management, the high need for both dentistry and podiatry treatment throughout life and the benefits of having opportunities for meeting others with the same disorder so they can share, support and offer upliftment for each other needs to be acknowledged. The families and carers also deserve recognition and support as their journey of caring for their loved ones is challenging and intense.


  • Gene therapy involving the development of engineered cells detailed in the recent news story about 7-year-old boy Hassan whose skin was genetically engineered by using a virus to insert the normal form of the mutated gene into his DNA and these cells were used to grow into sheets of skin for his skin grafts. Eighty percent of his skin was replaced in this manner.
  • A sheet of skin created from cultured cells, shown at St. Josef Hospital in Bochum, Germany.
    Credit: Mirko Wache/Ruhr University Bochum, via Associated Press

Although this is a fantastic result some questions will require answering such as the durability of the grafted cells and any complications that may occur in the future. Dr. Michele De Luca, the Director of the Center for Regenerative Medicine Stefano Ferrari at the University of Modena and Reggio Emilia in Modena, Italy says “A major concern with any type of gene therapy is that the inserted genetic material could have dangerous side effects, like turning off an essential gene or turning on one that could lead to cancer.”

  • Other gene transfer studies are being completed such as Stanford phase 1 clinical trial for skin grafting.
  • One research group led by Professor Rod Dunbar at the School of Biological sciences, University of Auckland has developed a Keratinocyte cell culture and can grow skin from a 10 cent piece size into enough to cover a whole body in 25 days with his new technology. This allows a sample of skin to be formed into sheets that can be grafted onto an individual by a surgeon.
  • Protein replacement therapy is being developed by Phoenix
  • Certain drugs that may help prevent fibrosis and therefore decrease scarring and potential skin cancer prevention.
  • Some plant based proteins have been found to have positive effects on EB and a gel has been developed by one pharmaceutical company (Amryt) called Olegel derived from Birch Bark. This is currently in later stage clinical trials (phase3).
  • Other plant proteins include Gentian Violet which has been made into a topical solution and found to substantially reduce inflammation and pain. Allantoin, amazingly found in maggot urine which has wound healing properties and is antibacterial and keratolytic along with Diacerin found in rhubarb.
  • Other agents that can offer positive results include Colchicine (anti-gout medicine) also has been found to reduce inflammation and is found in the crocus plant.
  • The antibiotic Gentamicin can offer positives of gainer function for people with EB although there have been issues with too much leading to some toxicity.
  • Professor Dedee Murrell discussed current research which focuses on the bodies anti-inflammatory immune response. A topical cream has been developed which contains SD-101, this stimulates receptors on immune cells and helps them to attack tumours. Also, Professor Allison Cowin from University of South Australia explained the use of a new antibody therapy which lowers the level of an inhibitory protein known as Flightless 1. This treatment may reduce the incidence of skin cancer in people with EB.

Lisa Crawford

Relationship Manager