Cystinosis Network Europe International Virtual Conference 2020 – 25th April

Cystinosis Network Europe and Cystinosis Ireland hosted the first ever Virtual International Cystinosis Conference 2020 on 25 April 2020 and attracted an audience of more than 600 participants from 49 different countries in 20 time zones across the world. It 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.

You can find details of the conference agenda here, attendee feedback here, and session recordings here.

Cystinosis Network Europe

Cystinosis Network Europe is an alliance of organisations in Europe and beyond, working to support people living with cystinosis and to fund and promote research into treatments and ultimately a cure for the condition.  The CNE was founded in May 2016 by cystinosis groups from eight European countries and has expanded to include representatives from Australia, South Africa and the United States.  Cystinosis Ireland is currently providing the secretariat to the CNE, with Anne Marie O’Dowd holding the position of Chair. The current primary objective of CNE is to formalise the organisation and gain charitable status to reflect the importance of our work.  You can find a poster about the work of CNE here.

CNE has a number of projects to support people living with cystinosis and their families.  These include an international conference every two years and the development of a Worldwide Community Advisory Board for Cystinosis, with the support of EURORDIS, Rare Diseases Europe. Details of this are below. We also work on issues of communications, education and support for people with cystinosis and their families, and where appropriate we support patients to access medications and treatments in their home countries.

The next international conference will be held in Dublin, Ireland from 9 – 12 July 2020 – more details below.

The alliance of the members of CNE was cemented in 2017 when the Network came together to support those living with cystinosis who had been on an extended clinical trial for Procysbi.   Those patients were threatened with removal of Procysbi by the company at the time in a bid to force a number of European countries to negotiate with the company.  It was through a concerted and targeted campaign headed by CNE that the decision was reversed and the patients remained on Procysbi until market access was available in their countries.  Some European countries still do not have access to Procysbi so the battle continues.  The experience, however, strengthened the cystinosis patient group community worldwide and highlighted to the group the importance and power of the community when we come together for a common cause.

The members of CNE include representatives from

For more information on CNE, contact or [email protected].

Worldwide Cystinosis Community Advisory Board

Patient Community Advisory Boards (CABs) are groups established and operated by patient advocates and facilitated by EURORDIS, Rare Diseases Europe. CAB members are people living with the specific condition, a close family member or carer, and/or a member of a patient organisation that works with the disease. You can see an explanatory poster about the CAB here.

CABs facilitate discussions on the latest developments and challenges related to medical research and procedures in our disease area with the sponsors of clinical research (a pharmaceutical or biotechnology company, or a hospital or university research team, for example). The discussions are held in a neutral setting and are structured around the principles of confidentiality, transparency, sharing, openness, optimisation of research and development, and a joint action plan as an outcome of the meeting.

The CAB patient advocates can offer their expertise by being involved before a clinical study starts and ensuring that clinical studies are designed to take into account their real needs, resulting in higher quality research. This could mean the CAB members, for example, offer their expertise in how the clinical trial is run, how the patients will be able to best adhere to protocols, or how to ensure continued access to the medication after the study ends.

The Worldwide Cystinosis CAB has 12-15 patient advocate members, who have knowledge of scientific as well as policy-related issues (ie, access). They provide expert advice to all stakeholders (companies and/or other researchers). The Worldwide Cystinosis CAB is supported by the EURORDIS EUROCAB Programme which assists patient organisations in setting up the CAB and offers guidance on common principles and tools for engagement, including capacity building of patient advocates through e-learning and other training opportunities, peer-to-peer exchange of experiences across CABs, quality monitoring of the process and outputs of CABs, transparency and prevention of competing interests, promotion of the programme, and evaluation and possible eventual scientific publication.

CABs were originally created in the 90s for HIV/AIDS, hepatitis and breast cancer to balance the fact that until then, medical science had evolved with little to no input from the people being studied. CABs change that, and help to design, carry out and communicate on studies that are more rational and inclusive from a patient’s point of view. By doing so, a bond of trust between the patients and scientific community is formed.

What exactly do CABs give input on?

On a wide variety of topics that their members are the experts on:

  • patient outreach
  • education on research
  • clinical studies and their design
  • criteria for participation
  • informed consent forms and processes
  • compassionate use programmes
  • retention of participants
  • and reporting on results

Input is also given on disease-specific topics such as clinical endpoints and how they are measured, meaningful patient-relevant outcomes (PROMs), disease registries and their common elements or factors that are meaningful to patients when measuring health and social outcomes.

Why now?

More than ever, patients and the patient perspective are seen as a way to make medical research and clinical studies more impactful, possibly quicker and certainly more efficient.

The Worldwide Cystinosis CAB is interested in engaging with all researchers at the earliest stage possible.  Please contact us for an information pack at [email protected].

(Adapted from