RaDiCo-ECYSCO, a European cystinosis cohort
Presented by Dr Aude Servais, Nephrology and Transplantation, Necker hospital, APHP, Paris, France
CoAuthors: Sonia Guéguen2, Marcella Greco3, Elena Levtechenko4, Gema Ariceta5, Georges Deschenes6, Aurelia Bertholet-Thomas7, Sandrine Lemoine8, Robert Novo9, Moglie Lequintrec10, Denis Morin11, Dominique Chauveau12, Stéphane Decramer13, Djamal Djeddi14, Lamia Toulait1, Marine Royer2, Isabelle Dufaure-Garé2, Francesco Emma3, Serge Amselem2, Patrick Niaudet1 and the RaDiCo team2
Abstract
Lay Summary
ECYSCO is a multicenter European cystinosis retrospective and prospective cohort. We describe here 126 patients (57 children, 69 adults). Half of them required dialysis or transplantation. 25% of patients presented with hypothyroidism, 58% with bone anomalies, 19% with muscle defect, 15% with neurological defect and 8% with diabetes. Identification and care of extra-renal complications are a major challenge in these patients.
Objectives of Study
Long term follow-up and optimal multidisciplinary care of cystinosis patients remain to be determined. ECYSCO is a multicenter European cystinosis cohort, retrospective and prospective, from RaDico program (Rare Disease Cohort). The primary objective is to describe the natural history of the disease, clinical manifestations, treatment and impact on quality of life.
Methods
Children and adults with confirmed diagnosis of cystinosis and followed up in 11 French centers and 3 European centers (Italy, Belgium and Spain) were included. Deidentified data were collected on the RaDiCo platform via an e-CRF (REDCap).
Resultts 126 patients (57 children, 69 adults) have been included. Mean age at diagnosis was 1,0 year (4 days-54 years) and age at inclusion was 20,1 years (children : 9,6 years [1-18], adults : 29,6 years [18-60]). 58 patients had available genetic results: 25 homozygous 57kb deletion, 33 heterozygous 57kb deletion associated with another mutation. At inclusion, 7% of patients were on hemodialysis and 41% were transplanted. Mean age at end stage renal disease was 12,5 years (4-32 ; n= 46). Mean eGFR on native kidney in children was 56 ml/min/1,73 m2 [IC95% : 36 ; 76] and in adults 46 ml/min/1,73 m2 [IC95% : 35 ; 57]. Mean leucocyte cystine level was 1,6 (0,2-9,1) nmol ½ cystine/mg protein.
25% of patients presented with hypothyroidism, 58% with bone anomalies, 19% with muscle defect, 15% with neurological defect and 8% with diabetes.
Specific treatments at inclusion were: Cystagon® 70% and Procysbi® 28%, no treatment 2%. In France, 89.6% of patients were switched during follow up to Procysbi. 89% received cysteamine ocular drops or gel.
Conclusion and discussion The majority of cystinosis patients are adults and half of them require dialysis or transplantation. Identification and care of extra-renal complications are a major challenge in these patients.
Authors’ Affiliations
1 Nephrology and Transplantation, Necker hospital, APHP, Paris, France
2 Unité Inserm UMR S933-RaDiCo, Programme national Cohortes Maladies Rares, Hôpital Trousseau, Paris, France
3 Pediatric Nephrology, Ospedale Pediatrico Bambino Gesù , Rome, Italy
4 Pediatric Nephrology, UZ Leuven, Belgium
5 Pediatric Nephrology , Vall d’Hebron University Hospital, Barcelona, Spain
6 Pediatric Nephrology, Hôpital R. Debré, APHP, Paris, France
7 Pediatric Nephrology, Hôpital Femme Mère Enfant, Lyon, France
8 Nephrology and dialysis, Hôpital E. Herriot, Lyon, France
9 Pediatric Nephrology, Hôpital J. de Flandre, Lille, France
10 Nephrology, Dialysis and Transplantation, Hôpital Lapeyronie, Montpellier, France
11 Pediatric Nephrology, Hôpital A. de Villeneuve, Montpellier, France
12 Nephrology, Hôpital Rangueil, Toulouse, France
13 Pediatric Nephrology, Hôpital des Enfants, Toulouse, France
14 Pediatric Nephrology, Amiens, France
