2026-04-13T18:27:38Zhttps://recercat.cat/oai/request

oai:recercat.cat:11351/124322025-10-24T10:23:54Zcom_2072_378070com_2072_378040col_2072_378092

00925njm 22002777a 4500 dc Lalanza, Simón author Peña, Catalina author Martínez Montero, Marta author Bezos, Carlos author Acuña Álvarez, Laura author Ariceta Iraola, Gema author 2025-01-17T12:18:04Z 2025-01-17T12:18:04Z 2024-11-18 Adherence; Cystinosis; Qualitative research Adherència; Cistinosi; Recerca qualitativa Adherencia; Cistinosis; Investigación cualitativa Background: Few studies have assessed patient-reported experience measures in nephropathic cystinosis. This study uses patient reports focused on the impact of cystinosis, cysteamine treatment-associated problems, and therapeutic adherence and suggests potential actions for improvement. Methods: In March 2022, six patients with nephropathic cystinosis treated with cysteamine, aged between 12 and 40 years as well as two caregivers, underwent standardized online interviews. Further, in April 2022, two online workshops were organized, each one with the participation of an advisory board consisting of up to four patients and six caregivers. As a result, the first patient journey mapping was developed considering pre-diagnosis, diagnosis and post-diagnosis steps, prescription of treatment, laboratory tests and daily life for patients, categorized by age (children, teenagers, adults). A patient support programme was also considered. Results: Patients were not completely aware of the risks associated with non-adherence. The main factors explaining poor adherence were impaired sleep and chronic fatigue, both related to cysteamine night dosing and prominent gastrointestinal symptoms. These factors have a negative impact on the daily lives of patients. Opportunities for improvement in disease management and therapeutic adherence in nephropathic cystinosis were highlighted. Consequently, a series of lines of action and suggestions were made. Conclusion: This qualitative study offers insights on nephropathic cystinosis from the point of view of patients and parents/caregivers. The critical steps during patient journey and the pitfalls for therapeutic adherence have been highlighted, opening ways to improve not only disease management but also the quality of life of patients with cystinosis. This research was supported by funding from Chiesi Spain. http://hdl.handle.net/11351/12432 Cistinosi - Tractament Adherència Pacients - Satisfacció HEALTH CARE::Health Care Quality, Access, and Evaluation::Delivery of Health Care::Attitude to Health::Treatment Adherence and Compliance CHEMICALS AND DRUGS::Organic Chemicals::Amines::Ethylamines::Mercaptoethylamines::Cysteamine Other subheadings::Other subheadings::/therapeutic use DISEASES::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Metabolism, Inborn Errors::Lysosomal Storage Diseases::Cystinosis Other subheadings::Other subheadings::Other subheadings::/drug therapy HEALTH CARE::Environment and Public Health::Public Health::Epidemiologic Measurements::Demography::Health Status::Quality of Life ATENCIÓN DE SALUD::calidad, acceso y evaluación de la atención sanitaria::prestación sanitaria::actitud ante la salud::cumplimiento y adherencia al tratamiento COMPUESTOS QUÍMICOS Y DROGAS::compuestos orgánicos::aminas::etilaminas::mercaptoetilaminas::cisteamina Otros calificadores::Otros calificadores::/uso terapéutico ENFERMEDADES::enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::alteraciones congénitas del metabolismo::enfermedades por almacenamiento lisosómico::cistinosis Otros calificadores::Otros calificadores::Otros calificadores::/farmacoterapia ATENCIÓN DE SALUD::ambiente y salud pública::salud pública::medidas epidemiológicas::demografía::estado de salud::calidad de vida Patient journey in cystinosis: focus on non-adherence and disease management