TY - JOUR
T1 - Worldwide disparities in access to treatment and investigations for nephropathic cystinosis
T2 - a 2023 perspective
AU - Regnier, Maitena
AU - Flammier, Sacha
AU - Boutaba, Mounia
AU - Ndongo, Aliou Abdoulaye
AU - Servais, Aude
AU - Schaefer, Franz
AU - Levtchenko, Elena
AU - Bacchetta, Justine
AU - Bertholet-Thomas, Aurélia
N1 - Funding Information: The authors declare that the survey was conducted in the absence of any commercial or financial relationship which could be a potential conflict of interest. INSERM 1033 received research grants from the Cystinosis Research Foundation for a translational research project on bone impairment in nephropathic cystinosis. Funding Information: This work was supported by members (JB, ABT, AS, FS, and EL) of the European Reference Network for Rare Kidney Diseases (ERK-Net). Publisher Copyright: © 2023, The Author(s).
PY - 2023
Y1 - 2023
N2 - Background: Nephropathic cystinosis (NC) is a rare lysosomal disease, leading to early kidney failure and extra-renal comorbidities. Its prognosis strongly relies on early diagnosis and treatment by cysteamine. Developing economies (DEing) face many challenges when treating patients for rare and chronic diseases. The aim here is to evaluate the access to investigations and treatment in DEing, and to assess for potential inequalities with Developed Economies (DEed). Methods: In this international cross-sectional study, a questionnaire on access, price and reimbursement of genetic, biological analyses, and treatment was sent to nephrology centers worldwide during 2022. Results: A total of 109 centers responded, coming from 49 countries and managing 741 patients: 43 centers from 30 DEing and Economies in transition (TrE), and 66 from 19 DEed. In 2022, genetics availability was 63% in DEing and 100% in DEed, whereas intra leukocytes cystine levels (IL-CL) were available for 30% of DEing patients, and 94% of DEed patients, both increasing over the last decade, as has access to immediate release cysteamine and to cysteamine eye drops in DEing. However, delayed released cysteamine can be delivered to only 7% vs. 74% of patients from DEing and DEed, respectively, and is still poorly reimbursed in DEing. Conclusions: Over the last decade, access to investigations (namely genetics and IL-CL) and to cysteamine have improved in DEing and TrE. However, discrepancies remain with DEed: access to delayed released cysteamine is limited, and reimbursement is still profoundly insufficient, therefore limiting their current use. Graphical abstract: [Figure not available: see fulltext.].
AB - Background: Nephropathic cystinosis (NC) is a rare lysosomal disease, leading to early kidney failure and extra-renal comorbidities. Its prognosis strongly relies on early diagnosis and treatment by cysteamine. Developing economies (DEing) face many challenges when treating patients for rare and chronic diseases. The aim here is to evaluate the access to investigations and treatment in DEing, and to assess for potential inequalities with Developed Economies (DEed). Methods: In this international cross-sectional study, a questionnaire on access, price and reimbursement of genetic, biological analyses, and treatment was sent to nephrology centers worldwide during 2022. Results: A total of 109 centers responded, coming from 49 countries and managing 741 patients: 43 centers from 30 DEing and Economies in transition (TrE), and 66 from 19 DEed. In 2022, genetics availability was 63% in DEing and 100% in DEed, whereas intra leukocytes cystine levels (IL-CL) were available for 30% of DEing patients, and 94% of DEed patients, both increasing over the last decade, as has access to immediate release cysteamine and to cysteamine eye drops in DEing. However, delayed released cysteamine can be delivered to only 7% vs. 74% of patients from DEing and DEed, respectively, and is still poorly reimbursed in DEing. Conclusions: Over the last decade, access to investigations (namely genetics and IL-CL) and to cysteamine have improved in DEing and TrE. However, discrepancies remain with DEed: access to delayed released cysteamine is limited, and reimbursement is still profoundly insufficient, therefore limiting their current use. Graphical abstract: [Figure not available: see fulltext.].
KW - Cysteamine availability
KW - Developing economies
KW - Nephropathic cystinosis
KW - Worldwide disparities
UR - http://www.scopus.com/inward/record.url?scp=85176752613&partnerID=8YFLogxK
U2 - https://doi.org/10.1007/s00467-023-06179-3
DO - https://doi.org/10.1007/s00467-023-06179-3
M3 - Article
C2 - 37978055
SN - 0931-041X
JO - Pediatric Nephrology
JF - Pediatric Nephrology
ER -