DEBRA Europe: A pan-European network for Epidermolysis Bullosa
“Short term pain for long term gain”, this is Melissa Smith's philosophy, when it comes to the various tests and trials she has been involved in to further research into EB (Epidermolysis Bullosa), the rare condition she was diagnosed with at birth. “Many patients are not willing to be the first to try a treatment and want to see how it affects others first,” she argues. “But I believe that, even if it can be intimidating when faced with injections and biopsies, one should be willing to be involved in the trials of it.”
Melissa has participated in a clinical trial for a new skin-cell therapy that has given the most encouraging results to treat EB so far. This new treatment aims to strengthen the skin. Participation in the trial involves an injection of normal fibroblast skin cells from donors who are able to make collagen type VII, a protein that is either missing or faulty in the skin of people with RDEB. Recessive Dystrophic EB is one of the most severe forms of EB, resulting in chronic wounds, scarring, pain, and fusion of fingers and toes and, for many, an aggressive and fatal skin cancer.
The pre-clinical work for this trial was funded through DEBRA UK, a member of DEBRA International. DEBRA International is a consortium of autonomous national EB patient organisations that cooperate on areas of mutual patient interest, including research. DEBRA's mission 'Working for a life free of pain' embraces not only action to deliver care, but also research to develop improved treatments.
The research that led directly to the trial was carried out by Prof. John McGrath and his research group at Guy's and St Thomas' Hospital, London. Prof. McGrath was one of the first DEBRA UK Clinical Research Fellows (a scheme whereby a promising young doctor is funded for 2-3 years to undertake research into EB before finishing specialist training). As both a clinical researcher and Melissa's specialist physician, Prof McGrath and his team had thoroughly assessed her wounds and skin, and evaluated whether she would be suitable for the trial with regards to the type and severity of her EB.
In 2006, Melissa agreed to participate in the early stages of the trial. Of all of the participants, her skin showed the greatest increase in collagen VII as a result of the fibroblast injections. This made her the researchers' ideal candidate to be involved in Phase I of the clinical trial, and, in summer 2008, Melissa agreed to be involved in this next stage of the trial. She recalls “I had 106 injections of fibroblasts into healed skin on my back, that would provide Prof. McGrath with a 10x10cm area of skin to take biopsies from for examination in the laboratories.”
The pain and discomfort endured by Melissa paid off. Fibroblast cell therapy is not a cure, but is the first treatment resulting in a step-change improvement in the treated skin and a major improvement in quality of life for the EB patient.
DEBRA is continuing to support further research into understanding how the therapy works, with the ultimate aim of refining the treatment or gaining insights into other possible treatments. It is also through DEBRA that the collaboration was initiated with Intercytex, the company that provided the fibroblasts for the trial at no cost. DEBRA UK is now funding the analysis of the Phase 1 data and working closely with the principal investigator, Prof. John McGrath, in preparation for a Phase 2 trial.
Melissa described her experience of participating in this trial to the EB community at the recent DEBRA International Research Conference, held in Vienna in September 2009. DEBRA organises this conference every three years to encourage collaboration between EB researchers and clinicians worldwide in tackling this rare disease. The fibroblast therapy was also presented, along with other research advances, at the annual DEBRA conference for EB patients and families, a few weeks later in Prague.
“EB patients have a strong interest in research, both fundamental and applied. The majority are very keen to participate in research that they see as helping themselves or others in the future, whether this is through voicing their views on research priorities to DEBRA, or cooperating directly with researchers and clinicians in providing samples, information on their condition, or participating in treatments and trials,” explains Clare Robinson, DEBRA International Research Manager. “It must be remembered that, for many of them, this involves considerable effort where travel is required, and sometimes physical discomfort - their input is essential and greatly appreciated.”
DEBRA frequently provides opportunities for patients and families to meet with researchers and clinicians to discuss research progress and access to clinical trials and treatments. Information is also provided via the website, and in newsletters to the membership. DEBRA UK-funded EB nurses also provide a route for individual patients to discuss concerns they might have when engaging in clinical trials. DEBRA has invested £11million in research over the last 30 years.
View recent Channel 4 UK documentary featuring Melissa's story
This article was previously published in the December 2009 issue of our newsletter.
Author: Paloma Tejada
Photo credits: © Inserm, Kings College London & DebraUK