Objectives
CLN2, a subtype of a group of disorders called Batten disease, is a progressive, terminal neurodegenerative condition. Symptoms include a debilitating combination of dementia, epileptic seizures, motor decline and vision loss causing profound disability and early death. Currently, there is no cure and the only treatment to address the underlying cause is cerliponase alfa, an enzyme replacement therapy currently available under a 5-year managed access agreement.
The BDFA’s objectives were to investigate family experiences with this treatment to form part of the submission for the re-evaluation of cerliponase alfa.
Methods
Two surveys were developed to generate answers required to fill in the Highly Specialised Technology guidance review following a period of managed access – patient organisation submission for NICE. One survey was used to sample families, the other was for education professionals. Questions consisted of open and close-ended questions with availability to expand on answers where needed.
Results
The family survey received 31 responses, and the education survey received 13. Eighty-four percent of parents stated that their children experienced substantial improvement or stabilisation in seizure severity, frequency and duration since they started receiving the treatment. Most parents also reported improvement or stabilisation in relation to other symptoms of the disease and 97% considered the benefit of treatment with cerliponase alfa as very important in relation to stabilisation of disease, activities of daily living, quality of life and leisure time. The surveyed teachers also noticed that seizures were being positively impacted by the treatment with cerliponase alfa and noticed a difference in the children following treatment with the biggest improvement seen in the attention span and quality of life.
Conclusions
This study found that treatment with cerliponase alfa had a positive impact on many of the symptoms associated with CLN2 Batten disease and improved the quality of the child’s life.