Researchers across Europe have put their heads together to combat this complex disease, which is most frequently caused by a group of rare neurodegenerative disorders commonly known as Batten disease.
‘We’re still far from reaching curative treatments but we’ve made impressive steps forward in the knowledge of the disease’s cellular mechanisms over the last two decades,’ said Dr Alessandro Simonati from the University of Verona in Italy, who was part of the EU-funded project known as DEM-CHILD that successfully concluded in 2014.
Batten disease is a group of devastating and debilitating genetic disorders that affect 14 000 children worldwide, with around 1 400 new cases each year. Children affected by the unrelenting disease lose all abilities over time, including motor, visual and speech abilities, and have uncontrollable seizures, placing a huge burden on patients and their families.
At the moment, there are 13 forms of Batten disease that are often subdivided according to the age of onset – infantile, late-infantile, juvenile and the much rarer adult-onset forms – all life-limiting.
‘We’ve made impressive steps forward in the knowledge of the disease’s cellular mechanisms over the last two decades.’
Dr Alessandro Simonati, University of Verona, Italy
‘The only tools to fight against these diseases are symptomatic drugs that can give some pain relief without dealing with the cause of the condition and the quality of complex care these patients require 24 hours a day,’ said Dr Simonati.
Yet there’s hope, the first treatment for one type of Batten disease was approved by the European Medicines Agency in May.
Dr Angela Schulz from the University Medical Center Hamburg-Eppendorf in Germany, the international principal investigator of the clinical trial and project coordinator of DEM-CHILD, said: ‘The development of this new treatment – an enzyme replacement therapy – has been possible only because of the data collected during the DEM-CHILD project, used to measure the effectiveness of this new therapeutic approach.’
Unfortunately this treatment is not applicable to all types of Batten disease. However, as part of the EU-funded BATCure project, Professor Sara Mole from University College London, in the UK, is looking to develop three other therapies for rare types of Batten disease where enzyme replacement therapy isn’t an option.
‘When we started, there were no treatments approved for Batten…