Within the space of just 4 weeks, Cystinosis Network Europe and Cystinosis Ireland turned the disappointment of cancelling the highly anticipated biennial International Cystinosis Conference 2020 (which had been scheduled to be held in Dun Laoghaire next July) and converted it into a roaringly successful virtual conference which was held on Saturday 25 April 2020.

The Virtual International Cystinosis Family Conference 2020 attracted an audience of more than 470 participants from 49 different countries in 20 time zones across the world. The conference was simultaneously translated into 7 different languages and featured presentations on a wide variety of clinical and research aspects of cystinosis from 16 world renowned clinicians, researchers and other healthcare professionals from USA, Canada, Ireland, Belgium, Germany, France, England and Scotland.  Many of the conference logins included several members of families from countries as far away as Australia, Mexico, Turkey Egypt, USA and Canada among others, who would not otherwise have been able to travel to and participate in the original in-person conference that had been planned.  One family in Australia listened in to the whole conference until 3 am in the morning.  Some other participants had never before had an opportunity to listen to world class cystinosis clinician and researcher experts talk and answer questions about their ultra-rare condition.  

The keynote speaker of the Virtual International Cystinosis Conference 2020 was Dr Stephanie Cherqui, Associate Professor at the Department of Pediatrics, Division of Genetics of the University of California, San Diego, USA.  

Dr Cherqui’s highly anticipated contribution to the conference focused on her pioneering research developing an autologous stem cell and gene therapy for individuals living with cystinosis.  Last year, Dr Cherqui received FDA approval for a human Phase 1/2 clinical trial for this ground-breaking therapy and the first patient was transplanted last October.  Dr Cherqui provided an update on the positive progress of this first patient who received modified version of their own stem cells which had been genetically engineered to produce and deliver functional cystinosin throughout the body.  At three months post-transplant, the patient has shown no unexpected safety events and a very promising reduction in their treatment burden.  While recruitment onto the trial has been curtailed by the current Covid19 pandemic, it is hoped to enrol further participants in the future once circumstances permit.  

The Virtual International Cystinosis Conference 2020 attracted a diverse mix of attendees including adults and families with many years’ experience of living with cystinosis as well as families that have newly diagnosed young children and are just beginning their cystinosis journey.  

In order to address the needs of this diverse audience, the conference drew on a wide variety of expert contributors who focused on providing essential information about cystinosis as well as highlighting new knowledge and breakthroughs in our understanding and treatment of the disease.  Speakers included: 

Professor Elena Levtchenko (Conference Scientific Chairperson; Pediatric Nephrologist; University Hospitals Leuven, Belgium) who gave an overview of cystinosis and how to manage it; Professor Don Cairns (Head of School of Pharmacy and Life Sciences, Robert Gordon University, Scotland) who explained to participants how the current cystinosis drugs Cystagon and Procysbi work and why they are important as well as highlighting potential new drug therapies that are currently being developed; Dr Joyce Senior (Department of Education, University College Dublin) discussed the educational needs of children living with serious chronic illnesses and the importance of working with schools to help them understand these needs.

A number of the conference sessions focused on the complications that arise with cystinosis.  Dr Rachel Bishop (Clinical Ophthalmologist at the National Eye Institute, National Institutes of Health, Maryland USA) spoke about how to effectively manage complications of the eye in cystinosis.  Professor Anuj Chauhan (Head of Department of Chemical and Biological Engineering, Colorado School of Mines, USA) presented on his exciting and novel research which aims to improve treatment of ocular manifestations of cystinosis by using contact lenses to deliver the cysteamine to the eye. 

Professor Justine Bacchetta, Professor of Pediatrics at the CHU de Lyon – Hôpital Femme-MèreEnfant in Lyon, France and Mr Christian Köppl, Physiotherapist at the Centre of Social Paediatrics in Traunstein, Germany presented on bone and muscle complications associated with cystinosis focusing on the underlying mechanisms why these occur and the importance of exercise to help reduce the effects of the disease.  Renowned pediatric nephrologist Dr Paul Grimm, (Stanford University School of Medicine, USA) gave an important presentation on explaining how and why cystinosis affects the kidneys, how patients can maintain their kidney health to the greatest extent possible whether prior to, or post transplantation.  Dr Aude Servais, Senior Nephrologist at the Department of Adult Nephrology and Transplantation, Necker Hospital, at Paris Descartes University, in France and Dr Ahmed Reda, Postdoctoral Fellow, at the University Hospitals in Leuven Belgium both spoke about fertility in male and female patients living with cystinosis.  

In addition to clinically-oriented presentations, the conference also spotlighted exciting new developments cystinosis research. Apart from Dr Stephanie Cherqui’s keynote presentation, other research highlights included: an overview of cystinosis research over the years and current research on the use of novel drug combinations to treat cystinosis which was delivered by Dr Patrick Harrison, University College Cork; Professor Emeritus Herbie Newell of the University of Sunderland, who presented on the development of CF-10 an inactive form of cysteamine which is activated at the cell surface and which should lead to smaller and less frequent doses, with fewer side effects; Professor Paul Goodyer of McGill University, Montreal Canada who presented on another exciting new drug therapy being developed by his research team which uses aminoglycosides to treat patients who have a specific cystinosis nonsense mutation; and a presentation by Professor Minnie Sarwal, Professor in Residence of Surgery, Medicine and Pediatrics at the University of California, San Francisco on a novel urine test which is being developed by her research team to track kidney injury and transplant rejection in patients with cystinosis.  

One of the most important elements of the virtual conference for participants, new and experienced, was the hour-long Q&A session at the end of the conference during which questions submitted through the chatline answered by the panel of cystinosis experts. 

The positive feedback on the virtual conference from participants which came in live via the online chat function was both humbling and heartwarming.  Participants were highly engaged, sought answers to many interesting questions, queried participation in various upcoming trials.  One of our experts, all of whom are well used to speaking at major scientific conferences noted that this was the largest audience to whom he had ever presented.  

Cystinosis Ireland and Cystinosis Network Europe is incredibly proud of the success of this first ever virtual cystinosis conference and on setting a new standard for future such conferences in the cystinosis world.  

Cystinosis Network Europe thank all those involved in delivering this conference including all of the speakers, clinical experts and researchers who contributed to the conference, the organisers Cystinosis Ireland, the sponsors of the event and the scientific Chairperson, Professor Elena Levtchenko.  

About Cystinosis

Cystinosis is an ultra-rare, inherited metabolic disease characterised by an accumulation of the amino acid, cystine. In cystinosis, the transport mechanism that removes cystine from cell is defective, resulting in a rapid build-up of cystine crystals in the cells which damages them causing severe organ dysfunction.  All of the body’s soft tissues and organs are directly affected by the cystine crystallisation, but the kidneys, eyes are usually affected first, with later complications of the disease occurring in the muscles, liver, pancreas, thyroid and central nervous system as well as in other parts of the body.

There is currently no cure for cystinosis, but the condition is currently treated using the drug cysteamine which reduces the level of cystine build up and delays damage occurring to cells and organs but does not prevent many symptoms of the disease.  In addition, those taking cysteamine experience many severe side-effects. 

About Cystinosis Ireland 

Cystinosis Ireland was founded in 2003 and is a non-profit organisation dedicated to funding cystinosis research, raising public awareness and providing support to those living with the condition.  The organisation is led by people with personal experience of living with cystinosis.

Cystinosis Ireland is one of the main organisations in Europe driving research in this rare disease.  Since its foundation in 2003, Cystinosis Ireland has supported research projects focused on all aspects of this rare disease to the value of €1.9 million either through direct funding or as a co-funding partner with Ireland’s national health research funding agency, the Health Research Board.

Cystinosis Ireland provides support and resources to families, medical professionals, researchers and others from the early stages of diagnosis through to adulthood.

Cystinosis Ireland is a company limited by guarantee.  Its registered office is 1-2 Cavendish Row, Dublin 1, Irelandand its Charities Regulatory Authority No is 20053796.

About Cystinosis Network Europe 

Cystinosis Network Europe (CNE) which comprises members from patient organizations across Europe and further afield. Eight European organisations come together to support people with cystinosis and promote research and form a network. CNE has a number of projects ongoing to support people living with cystinosis and their families.  In particular, CNE organises an international conference every two years and more recently it has established the Worldwide Cystinosis Community Advisory Board, with the support of EURORDIS (the European Organisation for Rare Disorders).

About the Worldwide Cystinosis Community Advisory Board 

Working with EURORDIS, CNE along with other international colleagues have established the Worldwide Cystinosis Community Advisory Board (CAB).  The Worldwide Cystinosis CAB enables the member organisations to interact in a structured and transparent way with treatment and medication researchers and developers to ensure patients are consulted as patient investigators in the development of treatments and therapies that will have an impact on their lives.

The Worldwide Cystinosis CAB provides advice to the researchers and developers about the efficacy of their informed consent process and the implementation of proposed research protocols.  The researchers and developers obtain valuable information and insights which they would not otherwise get about the community demographic they are targeting.