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. 2025 May 12;20(1):223.
doi: 10.1186/s13023-025-03747-8.

Evidence of the impact of CLN2 and CLN3 Batten disease on families in the United Kingdom

Sara E Mole  1 , Paul Gissen  2 , Shannon Nordstrom  3 , Suzanne Wait  4 , Louise Allen  5 , Mathilda Antonini  6 , Liz Brownnutt  7 , Richard Brown  8 , Barbara Cole  7 , Frances Gibbon  9 , Robert H Henderson  1   6   10 , Sarah Kenrick  7 , Zlatko Sisic  7 , Bob Thompson  7 , Joanna Nightingale  7
Affiliations

Evidence of the impact of CLN2 and CLN3 Batten disease on families in the United Kingdom

Sara E Mole et al. Orphanet J Rare Dis. .

Abstract

Background: Neuronal Ceroid Lipofuscinoses (NCLs), also known as Batten disease, are a group of inherited neurodegenerative disorders that mostly arise in childhood. Each of the NCLs is a genetically distinct disease caused by variants in at least 13 different genes (CLN1-CLN14). NCLs are neurodegenerative, and symptoms can include a combination of childhood dementia, epileptic seizures, motor decline and vision loss, and eventually lead to premature death. There is currently no cure for any subtype of NCL, however, enzyme replacement therapy is available for CLN2 disease, and several treatment strategies are being explored for other NCL subtypes. Early diagnosis and initiation of supportive services (e.g. health, education, social services) are essential to preserve quality of life. Only a few studies have investigated family experiences with NCL, many of which are international in scope.

Methods: A mixed-method research study was conducted in the UK to understand family experiences in CLN2 and CLN3 disease. It involved an initial literature review, followed by in-depth qualitative interviews. Interview data were analysed using a thematic analysis. Thirteen families (n = 13) participated in the interviews. This represented 16 parents (11 mothers and 5 fathers) of 18 children (10 diagnosed with CLN3 disease and 8 diagnosed with CLN2 disease). Findings were analysed jointly across CLN2 and CLN3 disease.

Results: Six overarching themes emerged from the analysis: difficulty in recognising early symptoms; the shock of a diagnosis; the demands of caring for complex and ever-changing needs; a constant battle to access appropriate and timely support services; the extensive impact on the unaffected sibling; and the all-encompassing impact on the family.

Conclusions: This study contributes novel UK specific data on family experiences and unmet needs in CLN2 and CLN3 disease. More needs to be done to ensure NCLs are diagnosed early, and timely local support services are made available to protect quality of life for both the affected children and their families.

Keywords: Batten disease; CLN2 disease; CLN3 disease; Family experiences; Neuronal ceroid lipofuscinoses; Parents; Siblings.

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Conflict of interest statement

Declarations. Ethics approval and consent to participate: This research was conducted in accordance with the British Healthcare Business Intelligence Association’s Legal & Ethical Guidelines for Market Research. The study was non-interventional, with subjects recruited via the BDFA. All participants provided written consent before participating in the study. Consent for publication: Not applicable. Competing interests: S.W. is an employee and S.N. is a consultant at The Health Policy Partnership Ltd, the organisation which received funding to conduct this research and draft the manuscript from the BDFA. P.G. has received payments to his institution as a study site according to clinical trial budget and honoraria and travel support from BioMarin Pharmaceutical. F.G. has received fees for advisory boards and travel grants from BioMarin Pharmaceutical.

Figures

Fig. 1
Fig. 1
Map of six themes from thematic analysis
See this image and copyright information in PMC

References

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