KDT in r(20) Syndrome
Ring Chromosome 20 Syndrome (r(20)) is an extremely rare and under-diagnosed disease, characterised by refractory epilepsy. Ketogenic diet therapy (KDT) is a viable and accepted treatment for children with refractory epilepsy, but very little is known about its specific use in r(20). Ring 20 Research & Support UK would like to learn more about KDT prescription, challenges and benefits, with the aim of improving resources for r(20) patients and families.
To initiate this project, we completed a scoping literature review to understand the current use of KDT in refractory epilepsies. We composed two online surveys to assess KDT experience within the medical profession (EU), and r(20) patients, families and carers (global). We then hosted a workshop with r(20) families, neurologists, dieticians, and researchers to interpret the findings and plan our next steps. Starter Funds have been provided by the University of Cambridge Public Engagement Team.
Ring 20 Research & Support UK plan to present our work at UK and European neurological conferences in 2020, and we have submitted a manuscript for open-access publication. As r(20) is an ultra-rare disease, Ring 20 Research & Support UK will continue to take the project forward in collaboration with EpiCARE (the European Reference Network for rare and complex epilepsies).