PLRH research study

First Ring20 Research Project Publishing at BPNA Meeting, Jan 2019

A Personal Journey by Donald Gordon, Ring 20 Research Support UK CIO Chair & Trustee

Finally after 5 long years of study and graduation in nutritional science and over 15 years of involvement in r(20)  I get to showcase a pilot research study at a British scientific meeting on r(20).

The real work began when I entered my final year of my nutritional science degree in 2018 which has been a lifelong ambition. I was given the opportunity to complete my dissertation and focus on an area that I was passionate about. Naturally r(20) and diet seemed to be an obvious and worthy subject.

The idea: I had long been intrigued and fascinated by the capacity for the ketogenic diet and its ability to control seizures. Hearing stories from family members and other patient support groups like Matthew’s Friends and watching that famous film ‘First Do No Harm’ starring the American actress Meryl Streep, I was no less curious about how it may relate to ours and similar epilepsy syndromes.

I therefore began by writing a research proposal for review by my institutions medical ethics committee at the Centre For Nutrition and Lifestyle Management (CNELM) – the title, after a little refinement emerged as “The mechanistic plausibility for the implementation of the ketogenic diet in r(20) and rare epilepsy syndromes.”

The Challenge: Unfortunately due to my involvement with the charity my initial proposal to survey r(20) families and medical professionals was not approved by the ethics committee due to a potential conflict of interest and potential for bias. Undeterred I went on to revise the proposal completing my dissertation with a literature review which concluded with the need for further research.

The Solution: Fast forward to March 2018 and a “Think Research” Rare Diseases Patient Day run by the National Institute for Health Research (NIHR) in London. Here I attended a presentation by The Patient Led Research Hub (PLRH) part of University of Cambridge Department of Medicine Clinical Trials Unit.

I was taken by the potential opportunity of us working with them to further develop our research profile and approached them on behalf of our charity which would allow the original part of my research dissertation to be fulfilled. After supplying them with a copy of my research work and methodology behind the dissertation they agreed to undertake a proposal and seek funding to facilitate a workshop and survey.  A small grant was secured and after circulating two surveys amongst medical professionals and r(20) families the workshop brought together representatives from these two groups including Dr Archana Desurkar, Dr Thomas Hiemstra, Dr Sophia Varadkar, Emma Williams MBE and four r(20) families  in London May 2019.

The future: After reviewing and analysing the results from the surveys and workshop this collaboration and input from medical professionals as well as r(20) families has now been written up and been accepted as a scientific poster abstract by the British Paediatric Neurology Association (BPNA)  for their conference in Belfast  on 29rd January 2020.

Needless to say I am very excited about presenting the scientific abstract poster at the conference and hosting an r(20) charity stand to help increase awareness among paediatric neurologists in the UK.

Here is a brief insight into what we concluded during this project.

The Ketogenic Diet (KDT) should be considered as an early intervention treatment option for individuals with r(20) who invariably have drug refractory epilepsy, along adherence to NICE guidelines. Furthermore the current age of r(20) patients (50% 18 years or older) reflects a gap in provision of KDT suggesting immediate need for increased provision of adult KDT services.

In addition, the findings and write up have been further developed to provide a scientific review paper which is awaiting final acceptance in the publication ‘Epilepsia’. This publication has been recommended by our medical advisor Dr Sophia Varadkar as being the most widely read relevant publication for neurologists and clinicians.

The abstract and review articles are entitled

“Assessing the Role of Ketogenic Diet in Ring20 Epilepsy: a Patient Led Approach”

I hope to be able to reveal access to the complete abstract and poster which I’m working on as I write this BLOG for all our members – I believe 2020 is going to be an exciting year particularly in the area of research for r(20) and I am proud to be part of the journey and mission.  I am also deeply grateful to the unstinting and remarkably collaborative support we received from Laura Mader and Dr Thomas Hiemstra from PLRH throughout the whole project.