Cystinosis in your center in 2022

Dear colleagues,


Ten years ago, with the help of the entire IPNA community, we performed a survey to obtain an overview of the global situation of patients with nephropathic cystinosis depending on their country of residence (1,2).


Time flies… New therapies have emerged in the field, from the delayed-released cysteamine (3,4) to hematopoietic stem cell gene therapy (5). New complications have been described, and international guidelines have been published (6).


Thus, in 2022, we would like to update our knowledge on the global health situation of patients with nephropathic cystinosis, so as to highlight persistent territorial disparities and to try to provide health care providers with practical tools when negotiating with private insurances and public health systems.


Results of this survey will be presented during the 3rd International Cystinosis Network Europe (CNE) in Leuven, Belgium in July 2022 (


Thank you so much in advance for your help and time to answer this survey that should take less than 10 minutes to complete, to help all patients with nephropathic cystinosis worldwide. Do not hesitate to contact us, should you have more insights to report!


Here is the link to the Google Form: 


Aurélia Bertholet-Thomas (Lyon, France), Justine Bacchetta (Lyon, France), and Elena Levtchenko (Leuven, Belgium)



1. Bertholet-Thomas A, Bacchetta J, Tasic V, Cochat P. Nephropathic cystinosis--a gap between developing and developed nations.

N Engl J Med. 2014 Apr 3;370(14):1366–7.  

2. Bertholet-Thomas A, Berthiller J, Tasic V, Kassai B, Otukesh H, Greco M, et al. Worldwide view of nephropathic cystinosis: results from a survey from 30 countries. BMC Nephrol. 2017 Jul 3;18(1):210. 

3. Langman CB, Greenbaum LA, Sarwal M, Grimm P, Niaudet P, Deschênes G, et al. A randomized controlled crossover trial with delayed-release cysteamine bitartrate in nephropathic cystinosis: effectiveness on white blood cell cystine levels and comparison of safety. Clin J Am Soc Nephrol. 2012 Jul;7(7):1112–20. 

4. Gaillard S, Roche L, Lemoine S, Deschênes G, Morin D, Vianey-Saban C, et al. Adherence to cysteamine in nephropathic cystinosis: A unique electronic monitoring experience for a better understanding. A prospective cohort study: CrYSTobs. Pediatr Nephrol. 2021 Mar;36(3):581–9. 

5. Rocca CJ, Cherqui S. Potential use of stem cells as a therapy for cystinosis. Pediatr Nephrol. 2019 Jun;34(6):965–73. 


6. Hohenfellner K, Rauch F, Ariceta G, Awan A, Bacchetta J, Bergmann C, et al. Management of bone disease in cystinosis: Statement from an international conference. J Inherit Metab Dis. 2019;42(5):1019–29.