KDT in r(20) Syndrome
Ring Chromosome 20 Syndrome (r(20)) is an extremely rare and under-diagnosed disease, characterised by refractory (hard to treat) 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 wanted to learn more about KDT prescription, challenges and benefits, with the aim of improving resources for r(20) patients and families.
We completed a literature review to understand the current use of KDT in refractory epilepsies, and conducted online surveys to assess KDT experience within the medical profession and r(20) patients, families and carers. We then hosted a workshop with r(20) families, neurologists, dieticians, and researchers to interpret the findings and plan our next steps. The project was awarded a Starter Fund by the University of Cambridge Public Engagement Team.
As r(20) is an ultra-rare disease, Ring 20 Research & Support UK will combine resources and take this project forward in collaboration with EpiCARE (the European Reference Network for rare and complex epilepsies). Contact the charity if you’d like more information, or to be involved with upcoming research.