Orphanet Journal of Rare Diseases (Jan 2022)

Impact of the COVID-19 pandemic on access to the cerliponase alfa managed access agreement in England for CLN2 treatment

  • Amanda Mortensen,
  • Eva M. Raebel,
  • Samantha Wiseman

Journal volume & issue
Vol. 17, no. 1
pp. 1 – 15


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Abstract Background 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. 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. Methods Telephone interviews were conducted with nine families, representing 11 children with CLN2 disease, and two HCPs in November and December 2020. Results Children 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. Conclusions Looking 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.