On Saturday 10th Oct 2020 Cystinosis Foundation UK ran their first online Cystinosis Symposium, co-hosted by Metabolic Support UK as part of their 2020 Virtual Annual Conference. In a packed 2 hour session we heard from 4 contrasting speakers before opening up into a Q & A session, expertly moderated by Pushpa Hossein from MSUK. There was a real positive vibe about the session both in the presentations themselves and in the following discussion. As well as parents, carers and patients from the UK we also had representatives from Ireland, Spain, Australia, and Brazil.
Up first was CFUK Trustee, Alex Hutchison, who kicked off with an introduction to cystinosis and its current treatments. She went on to outline some CFUK developments over the coming year including a digital newsletter, family meet-ups (initially online), cystinosis information (leaflets etc.) for clinicians and continuing support for the pro-drug development (CF 10) run by Professor Herbie Newell.
Next on was, Dr Amrit Kaur, Paediatric Nephrologist from Royal Manchester Children’s Hospital who gave some very encouraging statistics relating to Covid-19 for parents of children with cystinosis. Amrit said that in her hospital in Manchester they had contacted anyone who they felt might be at risk, but that, in general, children were at a very low risk of developing serious complications. Guidance, updated in August 2020 is available from the British Association for Paediatric Nephrology.
Dr David Game, Nephrologist from Guy’s and St Thomas’ Hospital covered a lot of ground:
The Rare Renal patient registry (RaDaR) have recruited 144 cystinosis patients so far. It is worth checking with your specialist to see if you have been registered on this.
Cystinosis has also been approved as a project on the National Institute for Health Research (NIHR) BioResource for Rare Diseases and will be recruiting soon. The NIHR BioResource is collecting genetic information from individuals in order to help understand the genetic make-up of rare diseases and to support research into therapies. Guy’s and St Thomas’ Hospital is the lead institute for the Cystinosis project.
Although approval was not granted in February for Cystadrops to be made available through NHS England David is hopeful that they may be approved in a future decision.
David was also optimistic about the progress towards a national designation for cystinosis which would include establishment of a number of highly specialist cystinosis management centres to coordinate treatment and research. Progress has been delayed by Covid but is now back on track.
David’s final slide gave us a glimpse of a range of new developments including:
Professor Herbie Newell completed the presentations with a detailed look at the science behind the innovative pro-drug, CF-10, and the way in which it could radically improve on the current cysteamine therapies (Cystagon and Procysbi) by reducing the number of daily doses, reducing side effects (gastric irritation, halitosis and body odour), and improving the delivery of cysteamine to the kidneys. As with many trials Covid has caused a delay but Herbie is still optimistic that they will be able to do a run-in study with existing treatments to test how the clinical trial will work (2021-2022) leading to commencement of Phase 1 clinical trials in 2022. It is expected that these trials will take place in Birmingham under the leadership of Dr Graham Lipkin.
Cystinosis Foundation UK would like to thank Metabolic Support UK for giving them the opportunity to run the session and to all the presenters and participants for sharing their experiences.
Report written by Will Newman, Trustee.