SUMMARY OF RESEARCH BEING UNDERTAKEN

For children with EB, pain is a prominent and distressing symptom. Long term chronic pain is not only unpleasant but contributes to difficulty in walking or moving around, inability to participate in normal activities such as school, sports and socialising with friends, feeling ‘low’ or depressed and a general reduction in the quality of life for that person.

Pain and lack of mobility can also compound physical effects on the body such as loss of muscle strength, thinning of bones, muscle stiffness (sometimes called contractures) and the development of a ‘vicious circle’ making all these problems worse. A characteristic of this chronic pain is that it does not respond very well to normal painkillers such as paracetamol or morphine. This is because it is thought to originate from damaged nerves and for this reason such pain is sometimes known as neuropathic pain.

Neuropathic pain is difficult to treat but it does respond to certain drugs which are active on the nerves themselves, these drugs are often used clinically for other conditions of the nervous system such as epilepsy or depression. Fortunately, investigations have shown that lower doses are needed for pain than for treatment of other conditions as many of these drugs have side effects such as dry mouth, blurred vision and they can also affect heart rhythm in very high doses.

Amitriptyline is used extensively in pain control clinics throughout the world and has also been used for pain in EB for many years, however like many such treatments, particularly in children, there are no clinical studies which have scientifically investigated its effects.

In this study, children with EB who would normally be eligible for treatment with amitriptyline because standard painkillers are not working well, will be asked to enrol in an investigation lasting 3 months. Before treatment how much pain they are having over a period of 1 week and if it is affecting their sleep will be carefully documented. They will also be interviewed about daily activities and general quality of life using a questionnaire especially developed for children with chronic pain. A physiotherapist will also assess their mobility using a commercially available computer assisted gait and movement system known as ‘Gaitrite’. They will also have an ECG (electrocardiograph) and echocardiogram.

After treatment is commenced children will document pain at home for 1 week each month for 3 months, they will also be contacted by a researcher who will ask about pain, activities and any side effects. After 3 months they will have a further physiotherapy assessment and ECG/ Echocardiograph for comparison with pre-treatment tests. Wherever possible the two visits to hospital will be combined with scheduled out-patient appointments. Forty patients will be needed. At the end of the trial, if it is effective amitriptyline treatment will be continued in consultation with the patient, family and Dermatologist in charge.