Скачать или смотреть Measuring the health-related quality of life in cystinosis - '25 CRN Family Conf

Presented by Stefanie Witt, PhD

Also known as the QUALIFY Study, this collects and will report on information received by both caregivers and those living with cystinosis 26 years and younger.

Part 1 introduces the concept of patient-centered treatment, highlighting recent medical advances and the critical role of patient-reported outcomes in assessing health-related quality of life (HrQoL). It explores what patient-reported outcome measures are and examines the current state of research on HrQoL, specifically in patients with cystinosis.

Part 2 presents the QUALIFY research project dedicated to the development and validation of a condition-specific questionnaire designed for young people living with cystinosis. The section outlines the project’s objectives, methodology, and key findings, and provides an outlook on future applications and research directions.

As of August 2025, the 10-minute survey is still active and available in multiple languages here: https://cystinosis.org/research/parti...