Previous achievements include

·    Introduction of gastrostomies to improve the nutrition of children with EB and to combat the malnutrition that accompanies the severe forms of the condition

·    Funding of the EB diagnostic service, resulting in much earlier pre-natal diagnosis using genetic markers

·    Improvements in wound care

·    Development of age-appropriate pain relief techniques

·    Trials of dressings and other medications

·    Evaluation of dietary supplements and interventions

·    Development of physiotherapy regimes suitable for the special needs of people with EB

·    Psycho-social research

Current projects

Pain relief

Open label cohort study of the efficacy and cardiovascular safety of low dose Amitriptyline treatment for chronic pain, disordered sleep and reduced mobility in school age children with EB. Dr Richard Howard, Great Ormond Street Hospital, London.

The mechanism and efficacy of topical opioids in paediatric EB. Dr Gillian Watterson, Institute of Child Health, London.

Pain in EB. Dr Barbara Hoggart, Solihull Hospital, West Midlands.

Pain is a common and severe symptom of many forms of EB and the relief of pain is a priority for people with the condition. DebRA’s current programme focuses on two elements:

·    Understanding the different types of pain experienced by people with EB and using this knowledge to devise more effective pain relief strategies

·    Evaluating different pain relief drugs for efficacy and any possible side effects.

Fellowships

DebRA Fellow. Prof. John McGrath, St Thomas’ Hospital, London.

DebRA Ophthalmic Fellow. Mr Ken Nischal, Great Ormond Street Hospital for Children

DebRA Dermatology Fellowship. Dr Celia Moss, Birmingham Children’s Hospital

The DebRA Fellow post at St Thomas’ is well-established and has served as a training ground for many of the leading UK clinicians with an interest in EB, who have been funded for 2-3 years to undertake a substantial piece of research. The focus is both clinical and pure research. The current Fellow’s work is concerned with the development of pre-implantation genetic diagnosis, i.e. a method whereby, during IVF the fertilised eggs are tested to determine whether the defective gene has been passed on and only unaffected eggs are re-implanted into the womb.

Some people with EB are prone to blistering of the eyes, which is both painful and incapacitating. In this project, an ophthalmologist is training is given a one year Fellowship to support Mr Nischal in researching common eye problems. Initial research interests include meibomian gland abnormalities and the evaluation of the feasibility of gene therapy via the limbal stem cells.

The DebRA Dermatology Fellow, in addition to participating in the day-to-day running of the Birmingham EB service, will provide clinical input into the national database for EB, a Department of Health funded register of all patients known to the UK specialist centres. The collecting together of information about the symptoms and clinical interventions experienced by people with EB will be of great value in creating insights that will inform clinical management and research into symptom relief.

Psycho-social research

EB Register. Dr Mavis Hartley, Coventry.

Identifying the psychosocial needs and difficulties experienced by people with EB. Prof. Nichola Rumsey, University of the West of England.

The psychological adjustment of children with EB and the differential effects of disease and psychosocial variables. Ms Kristina Soon, Great Ormond Street Hospital for Children, London.

Little work has been undertaken in the past on the psychological and social consequences of EB. The well-established EB Register has data on approximately 1,000 people with EB in the UK which has proved of great value both in clinical issues but also in understanding the lifestyles and challenges faced by people with the condition.

Other aspects of the programme investigate the psychological factors involved in dealing with EB and will provide guidance for people with the condition, parents and professionals.

Diagnosis

DNA handling and mutation detection in skin fragility disorders. Prof. Irwin McLean and Dr David Baty, Ninewells Hospital and Medical School, Dundee.

For many years, DebRA has funded the provision of diagnostic services in EB, as a by product of the research campaign. Thankfully, the NHS now funds a diagnostic laboratory for recessive forms of EB but DebRA funds are still needed to provide genetic diagnosis for dominant forms of the condition.