Beyond Batten Disease Foundation is proud to share a major milestone for families, clinicians, and researchers working to improve care for individuals affected by CLN3 juvenile Batten disease: the publication of the first comprehensive international guidelines for the diagnosis and management of CLN3 disease. Published in Orphanet Journal of Rare Diseases, the article provides an evidence- and consensus-based tool designed for healthcare professionals involved in CLN3 disease care and notes that, until now, no comprehensive clinical recommendations existed for CLN3 disease.
This achievement is especially meaningful because BBDF helped make it possible from the project’s early development through completion. In September 2021, BBDF announced a formal sponsorship agreement with Care Beyond Diagnosis to establish internationally validated clinical management guidelines for CLN3 disease. At the time, BBDF recognized that methodically and transparently developed guidelines could help establish and improve standards of care, support access to effective management, and help families and clinicians navigate medical necessity.
BBDF’s investment was about more than funding a publication. It was about closing a critical gap for the CLN3 community. Care Beyond Diagnosis noted that BBDF’s financial commitment was important to keep the program moving forward and that BBDF would also be instrumental in helping get the completed guidelines into the hands of families and caregivers. Today, that commitment has reached the finish line: the guidelines are published, accessible, and available to support care conversations around the world. Read the guidelines here.
The completed publication brought together 39 international experts from eight specialties, including the perspective of patient advocacy, and resulted in 53 recommendation statements across 11 care domains. These domains include diagnostics, clinical recommendations and management, assessments, social considerations, ocular management, epilepsy and seizures, nutrition, respiratory health, sleep and rest, and end-of-life care.
The recommendations also reflect the kind of practical, multidisciplinary support families need throughout the course of CLN3 disease. Diagnostic delay and misdiagnosis remain major challenges, especially when vision loss—the most common early sign—is mistaken for more common eye conditions. The publication emphasizes early recognition, holistic management, and coordinated care, including support for families navigating CLN3 disease outside of specialist centers.
Importantly, BBDF’s support helped make the work possible while preserving the independence of the clinical recommendation process. The program was run separately by Care Beyond Diagnosis, that sponsors were not invited to participate in statement development, voting rounds, or manuscript preparation, and that sponsors were updated only on task completion.
This project is a powerful example of BBDF’s mission in action. Since its founding in 2008, BBDF has worked to eradicate juvenile Batten disease by raising awareness and funds to accelerate research for a treatment or cure. The foundation’s approach includes funding high-impact projects, filling gaps in juvenile Batten disease research, and working with scientists and project managers to identify, develop, coordinate, and monitor efforts that move the field forward.
For families, these recommendations offer a framework to help guide discussions with clinicians, advocate for care aligned with international standards, and support shared decision-making across the lifespan. For clinicians, they provide a practical reference for earlier diagnosis and more consistent, multidisciplinary management. For BBDF and our community of donors, families, advocates, and partners, they represent donor-powered impact from start to finish.
We are grateful to Care Beyond Diagnosis, the international experts and clinicians who contributed to this work, the patient advocates whose lived experience shaped the recommendations, and BBDF Principal Scientific Consultant Ineka Whiteman, PhD, who co-authored the publication. BBDF is proud to have supported this project through funding and in-kind support, helping turn a recognized community need into a completed, published resource for the global CLN3 community.
Read the full recommendations in Orphanet Journal of Rare Diseases.