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.
Determining feasibility of randomisation to high vs. ad libitum water intake in polycystic kidney disease: the DRINK randomised feasibility trial
Autosomal Dominant Polycystic Kidney Disease (ADPKD) is a common inherited condition where unrelenting cyst growth can cause kidney failure. Some research suggests that drinking water beyond the point of thirst can slow cyst growth by suppressing the hormone vasopressin.
Proposed by the UK PKD Charity, DRINK assessed if ADPKD patients could reliably drink enough water to warrant a large-scale trial. 42 participants were divided into ‘high’ and ‘ad libitum’ (aka usual) water intake groups. Participants recorded their own data through a smartphone app for 8 weeks and attended 3 clinical assessments. Our trial team found that the ‘high water’ group was able to maintain dilute urine at a level signifying reduced vasopressin production. Recruitment was successful and the two groups clearly had different levels of water intake, which means a large-scale trial is possible. The next phase is being taken forward by the charity and another research group, and will likely combine water intake with other medication.
Funding for DRINK was provided by the British Renal Society and Kidney Care UK (formerly British Kidney Patient Association) grant programme, PKD Charity, Addenbrooke’s Charitable Trust, and Kidney Research UK. Trial registration NCT02933268 and ISCRTN16794957. Contact PKD Charity if you’d like to be involved in upcoming research.
Hand-held potassium monitor for home use in Gitelman Syndrome
Gitelman Syndrome (GS) is a rare kidney disorder where magnesium, potassium and salt are wasted into the urine instead of being re-absorbed into the blood stream. Patients take high doses of multiple supplements every day to compensate for the lost electrolytes, but this causes unpleasant gastrointestinal side effects and presents a high medication burden.
Patient members of Gitelman Syndrome UK proposed the idea of a hand-held, finger-prick device that could be used to monitor their blood potassium levels. The device would be similar to glucometers with disposable chips used regularly by diabetics. An immediate reading of blood potassium would enable patients to dose accordingly, ideally reducing the number of tablets and subsequent side effects.
In collaboration with the Department of Chemistry, University of Cambridge and initially funded by Kidney Research UK and Addenbrooke’s Charitable Trust, the device and sensors have been developed. Led by Prof Fiona Karet, the team delivered a successful proof-of-concept trial with 50 participants. Prof Karet has now established Kalium Health Ltd to continue the clinical development of the sensor.