We are pleased to share a major milestone in CLN3 disease clinical care with the publication of the first international consensus recommendations for the diagnosis and management of CLN3 disease, also known as juvenile Batten disease. These recommendations are designed to reduce diagnostic delay, improve global health equity, and support more consistent, multidisciplinary care for individuals and families affected by CLN3 disease - from early recognition and diagnosis through to long-term management.

Recommendations cover a range of care domains including Diagnostics, Clinical Recommendations and Management, Assessments, Social Considerations, Ocular Management, Epilepsy/Seizures, Nutrition, Respiratory Health, Sleep and Rest, and End-ofLife Care.

Key takeaways:

• Early diagnosis matters: Rapid bilateral vision loss is often the first sign. The guidelines urge ophthalmologists and paediatricians to consider CLN3 early to fast-track diagnosis and ensure timely access to appropriate care.
• Holistic, multidisciplinary support is essential: Care is not just about medical management; These recommendations reinforce the need for proactive, coordinated, multidisciplinary care across the lifespan, including psycho-social support for both the individual and their family.
• Guidance empowers families and clinicians: For families without access to specialist centers, these recommendations provide a practical framework to help guide care discussions, support shared decision-making, and advocate for management aligned with published international standards.

We are especially encouraged by the strength of this international collaborative effort, bringing together global clinical experts, researchers, and the vital perspective of lived experience through patient advocacy, including BDSRA Australia’s Dr Ineka Whiteman.

This article is a valuable resource and can be found here.