Battens Disease affects between 30 and 50 children in the UK, and causes seizures, loss of mobility, sight problems and progressive dementia.
Children with the condition lack a functioning version of the TPP1 enzyme and this leads to recurrent seizures, difficulty coordinating movements and progressive dementia. The therapy, which is infused directly into the brain via an implanted device, has been shown to restore enzyme activity and slow the onset of disability. In the trial, patients given cerliponase alfa showed 80% less decline in patients’ motor and language skills, when compared to the natural progression of the disease. The new therapy also reduced loss of brain tissue.
Previously, the outlook for children with Battens disease was poor with a life expectancy of less than 10 years. Children were given treatments that relieved symptoms of the condition, or palliative care in the final stages of the disease.
Professor Paul Gissen, NIHR GOSH BRC deputy theme lead for Novel Therapies and lead investigator at GOSH, said, “The research shows that this cutting-edge therapy can make a huge difference for patients with this devastating condition. Until now there have been no drugs to treat Battens Disease so we are delighted that the treatment has been made available”. Professor Gissen recruited four GOSH patients to the initial clinical trial and treated several more patients and siblings with the treatment as part of an expanded access study.
This first in child study was supported by Biomarin and by the NIHR GOSH Biomedical Research Centre and Clinical Research Facility, and involved highly trained highly-qualified clinical practitioners who administered the drug via a novel intraventricular device.
NHS England last week indicated that patients will be able access the drug before Christmas at the latest. GOSH is currently making preparations to allow patients to receive the drug when it becomes available.