Abstract
BackgroundCerliponase alfa, an enzyme replacement therapy for neuronal ceroid lipofuscinosis type 2 (CLN2), is currently available in England through a managed access agreement (MAA). It is administered every 2 weeks via an intracerebroventricular device. Here we report qualitative research with families of children with CLN2 disease and healthcare professionals (HCPs) who run the MAA, to understand how access to cerliponase alfa via the MAA at Great Ormond Street Hospital (GOSH) in London, and the overall management of CLN2 disease, was affected during the coronavirus disease 2019 (COVID-19) pandemic.MethodsTelephone interviews were conducted with nine families, representing 11 children with CLN2 disease, and two HCPs in November and December 2020.ResultsChildren had received cerliponase alfa treatment for a mean (SD) of 23.1 ± 24.7 months (7.1 ± 4.6 months in the MAA). Families travelled 7–398 km for treatment (mean 210 ± 111 km). Treatment with cerliponase alfa was designated “essential” by GOSH and continued as normal during the pandemic but with extra safety precautions, and no children missed any treatments. Families were highly motivated to continue treatment, despite considerable anxiety about the risk of coronavirus infection from travelling and staying overnight but were reassured by communications from GOSH and the safety precautions put in place. Support therapy services were widely compromised, causing families concern about deterioration in their children’s condition. Families were confused about COVID-19 testing and shielding, and were unclear whether children with CLN2 disease were vulnerable to COVID-19.ConclusionsLooking forward, advice for children with CLN2 disease should be specific and tailored, taking into account the family unit. Support therapies should be considered essential alongside cerliponase alfa treatment.
Highlights
Neuronal ceroid lipofuscinosis type 2 (CLN2) is one of a group of rare inherited neurodegenerative and life-limiting disorders, commonly referred to as Batten disease
Cerliponase alfa is infused via an intracerebroventricular (ICV) device, which is surgically implanted under the scalp using magnetic resonance imaging (MRI) guidance, 10–14 days before the first infusion [7]
Our qualitative survey with the families of children with CLN2 disease describes marked impacts of the pandemic on access to support services and family wellbeing. This coincides with recent studies reporting on the extensive worldwide disruption that paediatric and adult patients with inherited metabolic diseases have experienced during the COVID-19 pandemic [17,18,19,20]
Summary
Neuronal ceroid lipofuscinosis type 2 (CLN2) is one of a group of rare inherited neurodegenerative and life-limiting disorders, commonly referred to as Batten disease. Cerliponase alfa, a recombinant form of TPP1—an enzyme replacement therapy (ERT)—is the first disease-modifying treatment for CLN2 disease. It was licensed for the treatment of CLN2 disease by the European Medicines Agency in 2017 [5, 6]. Cerliponase alfa, an enzyme replacement therapy for neuronal ceroid lipofuscinosis type 2 (CLN2), is currently available in England through a managed access agreement (MAA). It is administered every 2 weeks via an intracerebroventricular device. We report qualitative research with families of children with CLN2 disease and healthcare professionals (HCPs) who run the MAA, to understand how access to cerliponase alfa via the MAA at Great Ormond Street Hospital (GOSH) in London, and the overall management of CLN2 disease, was affected during the coronavirus disease 2019 (COVID-19) pandemic
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