Development of Health-related Quality of Life Instrument for Patients With Cystinosis

Launched by CYSTINOSE STIFTUNG · Jul 24, 2023

Keywords

ClinConnect Summary

This clinical trial is focused on creating a special questionnaire to understand and measure the quality of life for patients with cystinosis, a rare inherited disorder that affects how the body processes a substance called cystine. The goal is to gather information from children, teenagers, and young adults, as well as their parents, to better understand how cystinosis impacts their daily lives. Currently, there are no specific tools to measure the quality of life for these patients, and this study aims to fill that gap by developing a questionnaire in multiple languages—German, English, Spanish, and French.

To participate in the trial, individuals must be between 8 and 26 years old and have a confirmed diagnosis of cystinosis. Parents of younger children (ages 0-7) are also invited to take part. Participants should be able to understand and communicate in one of the study languages. Those with serious cognitive issues or other major illnesses that affect their daily life will not be included. By joining this study, participants will help researchers create a better understanding of the challenges faced by those living with cystinosis, ultimately aiming to improve care and support for these patients and their families.

Gender

ALL

Eligibility criteria

• In all study phases, patient recruitment follows these inclusion criteria:
• Patients will be asked to participate in the study if they meet the following inclusion criteria:
• • Children, adolescents, and young adults aged 8-26 years (and at least one of their parents) and further parents only of children aged 0-7
• • patients have a confirmed diagnosis of cystinosis
• • patients have a sufficient knowledge of the German/ English/ French or Spanish language to participate in focus interviews and complete questionnaires
• • the informed consent of legal guardian and assent from the patient (if older than eight years) was given
• Exclusion criteria:
• • severe cognitive impairment
• • other severe illnesses that strongly determine everyday life