Infants suffering from osteogenesis imperfecta (OI), an inherited form of brittle-bone disease, could face a brighter future if trials at Sheffield's Children's hospital are successful, writes Nina Keller-Henman.
Between 100 and 200 children will be involved in the lottery-funded trials led by Professor Nicholas Bishop, the hospital's newly appointed professor for paediatric bone disease. Following a bone biopsy, infants taking part in the trial will be given the drug pamidronate intravenously. This is the first time that the drug, which has been licensed for use in adult patients for more than 20 years, has been used in infants in the UK. Older children will be treated with a new drug not previously available in the UK, risendronate, which is administered in tablet form. In both cases, the effect of the drug on the bone cells will be monitored as the medication is taken over several years.
Professor Bishop acknowledges that the drugs are only part of the treatment, which also involves physiotherapy, occupational therapy and even surgery. However, he says that preliminary results indicate that pamidronate "does make a difference to these children and it does improve their lives". Symptoms of OI are recurrent fractures, resulting in severe deformities and growth stunting. In severe disease, more than 50 per cent of patients are wheelchair-bound by the time they reach their teens.