ESPN 51th Annual Meeting

ESPN 2018

ECYSCO European Cystinosis Cohort
SERVAIS AUDE 1 Levtchenko Elena 2 Deschenes Georges 3 Ariceta Gema 4 Hohenfellner Katharina 5 Greco Marcella 6 Bertholet-Thomas Aurelia 7 Novo Robert 8 Lemoine Sandrine 7 Morin Denis 9 Choukroun Gabriel 10 Llanas Brigitte 11 Decramer Stephane 12 Guigonis Vincent 13 Roussey Gwanaelle 14 Pietrement Christine 15 Nobili Francois 16 RaDiCO team 17 Emma Francesco 6 Niaudet Patrick 1

2- University Hospitals Leuven, Katholieke Universiteit Leuven, Belgium
3- Robert Debré hospital, APHP, Paris
4- Hospital Universitari Vall d’ Hebron, Barcelona, Spain
5- Kliniken Südostbayern, Traunstein, Germany
6- Bambino Gesu` Children’s Hospital - IRCCS, Rome, Italy
7- Hospices civils Lyon, France
8- CHU Lille
9- CHU Montpellier
10- CHU Amiens
11- CHU Bordeaux
12- CHU Toulouse
13- CHU Limoges
14- CHU Nantes
15- CHU Reims
16- CHU Besancon

Despite some progress in recent years, there are still significant limitations in the knowledge of therapeutic procedures, optimal follow up and long-term complications for cystinosis patients. A first European registry was launched in 2011, using the CEMARA application allowing the collection of data from France, Belgium and Italy. The objective of the current study is to translate this database into a cohort study that will (i) allow and facilitate the collection of a wider range of data including clinical, and personal data such as quality of life data, from an increased number of European countries, (ii) improve the monitoring, data-management and analysis of the data, (iii) offer the possibility for patients to actively participate to and benefit from the study by developing a module in which patients will enter their own data on quality of life.

Material and methods:

This multi-centric European non-interventional study is based on a model of longitudinal observational and descriptive study, including retrospective (CEMARA and others) and prospective data. Data are collected during regular visits of routine care. The inclusion time will be 2 years. Successive regulatory authorisations have been obtained and patients inclusions started in September 2017. REDcap tool is used for collecting data.


Twelve centers in France, 1 in Italy, 1 in Belgium and Netherlands, in 1 Spain and 2 in Germany are participating to this project. 28 patients have been included and 187 patients already included in the CEMARA data base will be included as soon as informed consent will be signed.


This project is a unique opportunity for building a consensual European academic cohort not based on company driven, "drug-oriented" objectives. The cohort collects clinical details to analyse patients outcomes thus providing audit of patient care and clinical effectiveness. It will be possible, through the cohort, to indicate where improvements need to be made and ultimately improve care to the highest standards.