ESPN 53rd Annual Meeting

ESPN 2021


 
Health-related quality of life of children and adolescents with cystinosis
KATHARINA HOHENFELLNER 1 JULIA QUITMANN 2 STEFANIE WITT 2 KAJA KRISTENSEN 2

1- ROMED KLINIKUM ROSENHEIM
2- UNIVERSITY MEDICAL CENTER HAMBURG-EPPENDORF
 
Introduction:

Despite the impairments experienced by patients with cystinosis, very few studies investigate health-related quality of life (HrQoL) in this patient group and disease-specific HrQoL measures are lacking.Thus, the aim of this study is to develop a Patient-Reported Outcome measures (PROM) for children and adolescents with cystinosis.This instrument will capture the HrQoL from both the child/adolescent and parent perspectives.

Material and methods:

Based on international guidelines the PROM will be developed simultaneously in six countries (US, UK, Ireland, Germany, Spain & France).The study will take place in four phases within 24-months.Patients and parents will be recruited by clinicians and patient organizations.A first, the state of research on cystinosis and HrQoL will be examined in a systematic literature review. In phase 2, focus interviews with patients and their parents will be conducted to create preliminary questionnaire items.In phase 3, this preliminary questionnaire will be psychometrically tested in a pilot test.Subsequently, a cognitive debriefing will be conducted to examine the comprehensibility, completeness, and cultural applicability of the preliminary version from the patients and parents perspectives.In the fourth phase, the final questionnaire will be applied in a field- and re- test to evaluate its psychometric properties.

Results:

The final product will be a cross-cultural, psychometrically validated, practically feasible, and conceptually suitable instrument for children and adolescents with cystinosis. It will be available in English,German,French and Spanish.With further international collaborations, this tool can be linguistically validated and cross-culturally adapted for use in a wide range of countries.And while this project refers to the development of  a PROM for children, the development of a PROM for adult patients is planned as a follow-up project.

Conclusions:

First results will be presented and critically discussed.