Recommendations for the diagnosis and management of cln3 disease (batten disease) using the Delphi consensus methodology
- heathermason
- 2 days ago
- 1 min read
It has been an honour and a privilege to work with this exception group of experts from around the world in bringing this long-awaited project to publication.
Following on from the CLN2 guidelines we published in 2021, these CLN3 diagnosis and management recommendations will hopefully bring greater awareness of the condition, faster diagnosis, and cohesive multidisciplinary care across specialities.
I would like to thank the funding team and all the authors for their passion, perseverance and patience.
CLN3 disease (Juvenile Neuronal Ceroid Lipofuscinosis/Batten disease) is an ultra-rare, neurodegenerative lysosomal storage disorder typically presenting in childhood. Diagnosis is often delayed or missed, partly because the most common early symptom, vision loss is frequently attributed to other conditions.
To address the lack of comprehensive clinical guidance, an international expert group was assembled using a structured mapping tool, bringing together 39 specialists across eight disciplines, including a patient advocate. A systematic literature review following PRISMA guidelines was conducted alongside the development of clinical care statements. These statements then formed the basis of an international modified-Delphi consensus process, with agreement defined as 75% or above.
The process produced 53 recommendation statements spanning 11 domains, covering areas including diagnostics, epilepsy, nutrition, respiratory health, sleep, ocular management, social considerations, and end-of-life care. The recommendations scored 6.4 out of 7 on the AGREE II quality appraisal scale.
The authors conclude that these evidence- and consensus-based recommendations fill a significant unmet need, offering healthcare professionals a practical and comprehensive tool for managing CLN3 disease and potentially other similar neurodegenerative conditions.
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