The Dublin Cystinosis Workshop is an interactive forum for researchers to share knowledge, spark new ideas and explore new research approaches aimed at better understanding and treating cystinosis.  This year’s themes were: 1) Evolution in mechanistic / pathogenic insights in cystinosis, 2) Innovative treatment approaches/ Innovation in treatment and 3) Novel clinical aspects. The Workshop heard from researchers and clinicians from the USA, Canada, New Zealand, UK and Europe (including Ireland) who shared insights and most recent findings as efforts continue to identify new drug targets and effective therapies for cystinosis and ultimately to find a cure for this ultra-rare disease.  As part of our poster presentation, Louise Medaer of Katholieke Universiteit Leuven, was awarded the Professor Roz Anderson Memorial Prize for her presentation of her work on S Isogenic human cell models to unravel the underlying mechanism of cystinosis myopathy.

The Family Workshop was fun filled and action packed. Adult patients, parents and caregivers were given the opportunity to engage with our research and clinical colleagues to learn more about areas of importance to the community including therapy development, new areas of research and potential treatments of the future.  Our families also engaged with our research community to discuss current research projects and gain a greater understanding of the research process.  Our up and coming researchers were challenged to explain their work to a lay audience, who voted on the best presentation.  The Cystinosis Ireland Award for Best Oral Presentation to a Non Scientific Audience was awarded to Hayley Chang of the Frederick J. and Marion A Schindler Cognitive Neurophysiology Lab (CNL), University of Rochester School of Medicine and Dentistry, New York, for her work on Development and Characterization of a Cystinosis Knock-Out Mouse Model Using CRISPR/Cas9. 

While the adults were learning and sharing their perspective with the scientific attendees, the children were enjoying activities including archery, fishing, canoeing, wall climbing, crazy golf, movie making and prank parties.  The sun shone and screens were abandoned for an opportunity to make new friends and try new experiences.  The Barretstown team were invaluable tin supporting the children to enjoy every moment of the weekend.

Cystinosis Ireland is very grateful to all involved in putting this weekend together: the DCW Scientific Committee, under the guidance of Dr Koenraad Veys; our Support Committee; and our staff, as well as the staff and volunteers of Barretstown. 

The annual Dublin Cystinosis Workshop was held online on Thursday 21st April 2022, creating collaborations and conversations between world class researchers and clinicians. Now in its eighth year, this unique event allows those active or interested in cystinosis research to share their insights and most recent findings as efforts continue to identify new drug targets and effective therapies for cystinosis and ultimately to find a cure for this ultra-rare disease. 

Several new treatments were discussed at the meeting; for example, a proof-of-concept study found that the gene MFSD12 may be a viable therapeutic target for a new class of cystinosis drugs. Meanwhile, a drug combination of cysteamine and everolimus has shown promise in mice – addressing issues caused by cystinosis while also preserving kidney function. Cell and gene-based therapies are showing curative potential and research in this area is making significant ground. According to studies carried out in mice, early therapy with a drug called ELX-03 could prevent progressive Fanconi Syndrome. Excitingly, the prodrug CF10 is due to start clinical trials in 2024. In addition, new therapies may be en route for issues such as cystinosis myopathy.  

Efforts to improve the quality of life of cystinosis patients are also bearing fruit; for example, it was reported that whole body vibration therapy is safe and effective and early results show that an exercise programme that incorporates it appears to help improve muscle strength and balance in people with cystinosis. One of the keynote scientific speakers, Dr Andreas Natsch, head of in vitro Molecular Screening at Givaudan Schweiz in Switzerland, outlined how body odour has a significant impact on quality of life for cystinosis patients. He explained that scientists had recently gained a better understanding of the processes involved in odour release, and thus may be able to manipulate the release of the odour-causing compounds. New vitamin E technology used in contact lenses appears to allow for the sustained release of cysteamine for as long as eight hours, meaning administration of large quantities of eyedrops could be a thing of the past for cystinosis patients.  

And as cystinosis patients live longer, healthier lives, issues such as fertility in cystinosis patients are finally being addressed. The molecular basis for fertility issues are being examined and are close to being understood and this may open up new therapeutic avenues. 

Another keynote scientific speaker, Professor Paul Grimm, Professor of Paediatrics (Nephrology) at Stanford University, outlined a groundbreaking new procedure whereby a combined stem cell and kidney transplant are carried out at the same time with a view to leaving the patient drug free. 

A fitting presentation was the one given by Public Patient Involvement Manager at the RCSI University of Medical and Health Sciences in Dublin, Ms Lorna Kerin. She noted that patient involvement in research from the very earliest stages is not just a “nice to have” but a must-have. This involvement must be meaningful and not tokenistic. Cystinosis Ireland is well placed to lead high impact PPI, with a well-motivated and highly educated patient population. “People with cystinosis have the expertise on how to live with the disease but also they have educated themselves beyond what people living with other more common diseases have done,” agreed Ann Marie O’Dowd of Cystinosis Ireland.  

The winner of the 2022 Prof Roz Anderson Memorial Prize was Elena Sendino Garví.  Elena is a PhD candidate at the Utrecht Institute for Pharmaceutical Sciences (UIPS), in Utrecht, the Netherlands. The Prize is awarded to the best short science communication at the Dublin Cystinosis Workshop, as voted on by the attendees and celebrates the life and work of Prof Anderson, a staunch supporter of the cystinosis community and a leading researcher in the field.   Elena’s current research focuses on kidney ciliopathies and tubulopathies, with the aim of using drug repurposing approaches and gene-editing (Crispr-Cas9) to restore the cell function of these kidney conditions. At the moment, she is working on the development of a new 3-D bioengineered model for nephropathic cystinosis, in addition to the restoration the gene function and phenotype of cystinotic cell lines using Crispr-Cas9 HITI approach. 

The Workshop also took the opportunity to celebrate the tremendous work by Dr Don Cairns and Dr Bill Gahl and the contributions they have made to the cystinosis research and patient communities in their careers.  We also took the opportunity to pay tribute to the late Dr Jerry Schneider who is sadly missed.

The DCW creates a creates a sense of community among researchers, clinicians, family members and those living with cystinosis. It creates a sense of belonging to something special with a shared common goal. We hope our 9th annual DCW 2023 will take place in person and will be just as impactful as this year’s event. 

The 7^th Annual Dublin Cystinosis Workshop went virtual again in 2021.  On 20^th May Cystinosis Ireland hosted the biggest cystinosis research event in Europe this year, with 66 researchers, clinicians, and patient experts from 14 countries joining on Zoom.  The first of the keynote speakers, Prof David Sabatini of the Whitehead Institute, MIT, was a new face to many of in the cystinosis world.  His lab specialises in mechanisms that regulate physiological and pathological growth and metabolism in mammals, with an interest in the signalling pathway anchored by the mTOR kinase, which David discovered when he was an MD/PhD student with Dr Solomon Snyder at Johns Hopkins Medical School.  David’s keynote address focussed on the MFSD12 mediation of cysteine importation.

The second keynote speaker was one more familiar to many in our community.  Prof John Foxe of the University of Rochester School of Medicine and Dentistry discussed Exploring the Neurophysiology of Cystinosis.  Prof Foxe was joined by his colleague Dr Ana Francisco to answer questions and discuss some of the issues raised by their research.

The DCW continues to be a valuable forum for researchers new to the field to introduce their ideas and gain feedback from their peers on the work they are undertaking.  Our well-established colleagues continue to share their knowledge and expertise generously.  Ten speakers presented short communiques of the new research results and novel and exploratory research directions they are undertaking, with Dr Jennifer Hollywood of the University of Auckland returning as last year’s winner of the Prof Roz Anderson Memorial Prize.  The presenters of these short communiques were eligible for the 2021 prize and this year Tjessa Bondue, a new researcher in the area of cystinosis, was the winner.  You can see more about Tjessa’s work here - https://cystinosis.ie/home/research/dublin-cystinosis-workshop/dublin-cystinosis-workshop-2021-agenda/tjessa-bondue/. 

Two other sessions rounded out the day.  The first was a discussion of the potential to create a cystinosis clinical trials hub in Ireland.  Presenters from the National Office for Research Ethics Committees and the Health Products Regulatory Authority, both state bodies instrumental in the development of a suitable environment for clinical research in Ireland, explored and explained how clinical research infrastructure works and can support research here.  Prof Francesco Emma also joined the meeting to share the importance of a worldwide patient registry and how that can and should assist trials.   

The final session was updates from clinical trials being planned or currently under way.  Prof Herbie Newell (University of Sunderland) discussed his team’s work on the pro-drug CF-10; Prof Paul Goodyer (Magill University) updated on the development of a drug therapy for the nonsense gene mutation; Prof Anuj Chauhan (Colorado School of Mines) discussed his plans for cystinosis therapy by contact lenses; Prof Stephanie Cherqui (UCSD) discussed the hematopoietic stem cell gene therapy for cystinosis with some updates from the phase I/II clinical trial; and Cecile Berends updated on a novel sustained release cysteamine bitartrate formulation for the treatment of cystinosis.  It was extremely exciting and interesting to hear of the work being done across the world aiming to bring new and more tolerable treatments to people living with cystinosis. 

Cystinosis Ireland would like to thank most sincerely the excellent meeting chairs, Prof Atif Awan (Children’s Hospital Ireland, Temple Street) and Prof Elena Levtchenko (KU Leuven, Belgium) who were ably assisted by Dr Patrick Harrison (University College Cork) and Dr Jennifer Hollywood (University of Auckland), for all their hard work, and in particular keeping the meeting on time!  The conference committee also included Dr Thomas McDonald (Bristol Myers Squibb & Cystinosis Ireland board member); Dr Achim Treumann (KBI Biopharma BV & Cystinosis Ireland scientific advisor); Anne Marie O’Dowd (Cystinosis Ireland board and scientific committee member, Chair of Cystinosis Network Europe); Dr Ruth Davis (Cystinosis Ireland research manager) and Denise Dunne (Cystinosis Ireland operations manager).