Development of a Patient-reported Outcome to Measure the Health-related Quality of Life of Children, Adolescents and Young Adults With Cystinosis.
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 300
- 试验地点
- 1
- 主要终点
- Semi-structured interviews with young patients with cystinosis and their parents to identify relevant aspects of disease-specific HrQoL
研究概览
简要总结
Cystinosis is a rare congenital, inherited metabolic disorder that results in the storage of cystine in the cells of many organs of the body. In the infantile nephropathic form of the disease, only the kidney is initially affected by a loss of function, which progresses if untreated and ends in terminal renal failure by early school age. With the prolonged survival of patients due to medication and renal replacement therapy, further loss of function may occur during the course of the disease, especially in the eyes, muscles, endocrine organs and central nervous system.
The quality of life of children with cystinosis is an under-researched topic. The results of the studies available so far show that the young patients and their families report a reduced quality of life and sometimes behavioral problems.
To date, there are no disease specific patient reported outcome measures (PROMs) to measure the quality of life of patients with cystinosis. The aim of the study is to develop a PROM for this target group in several languages (German, English, Spanish and French) from different countries (Germany, United States, Spain, France). The PROM will focus on quality of life and will be developed for children, adolescents, and young adults including parent-report of parents with children aged 0 to 26 years.
详细描述
First, a literature review was conducted to identify relevant quality of life topics for the focus interviews. The development of the cystinosis-specific PROM will include three phases with patient recruitment: (1) focus interviews, (2) pilot-test and cognitive debriefing, and (3) field and re-test.
- Focus interviews with up to 25 parents (of young patients aged 0 to 26) and 15 young patients (ages 8-26) per country (Germany, France, Spain and USA) will discuss aspects relevant to the young patient's quality of life. A pilot instrument version will be developed based on the interviews and then translated into the other project languages according to ISPOR guidelines.
- The pilot instrument (translated) will be administered to patients and parents along with a cognitive debriefing to assess the comprehensibility, interpretation, and cultural relevance of the items. Up to 200 parents (25-50 per country) and 120 young patients (15-30 per country) will complete the pilot instrument and cognitive debriefing.
- At least 300 parents (75 per country) and 180 young patients (45 per country) will complete the refined questionnaire as part of a field and re-test.
The questionnaire will be filled out again after two weeks by at least 20% of the patients and parents to assess the test-retest reliability.
The final product will be a psychometrically validated, easy to use, and conceptually appropriate quality of life instrument available in German, English, Spanish, and French for use in research and patient care.
研究设计
- 研究类型
- Observational
- 观察模型
- Other
- 时间视角
- Other
入排标准
- 年龄范围
- 8 Years 至 26 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- 未提供
排除标准
- 未提供
结局指标
主要结局
Semi-structured interviews with young patients with cystinosis and their parents to identify relevant aspects of disease-specific HrQoL
时间窗: January 2023 - May 2024
Semi-structured interviews are conducted to create a pilot test version of the preliminary disease-specific HrQoL tool (QUALIFY). The results of the qualitative analysis will be used to derive an initial item list and response categories of the preliminary questionnaire.
Field-test and of the final version of the disease-specific HrQoL tool (QUALIFY) for young people with cystinosis
时间窗: September 2024 - April 2025
A field- and re-test for psychometric assessment of the final version of the QUALIFY questionnaire is performed.
Pilot-test version including a cognitive debriefing to assess the preliminary disease-specific HrQoL tool (QUALIFY) for young people with cystinosis
时间窗: March 2024 - August 2024
A pilot-testing of the preliminary version of the QUALIFY questionnaire, including a cognitive debriefing, are performed, so that young patients and parents report on the comprehensibility, completeness, and cultural applicability of the questionnaire from their perspective.
次要结局
- Health related quality of life measured by the newly developed (disease-specific) PROM(September 2024 - April 2025)
- Health related quality of life measured by the chronic-generic DISABKIDS Questionnaire(May 2022 - April 2025)
- Health related quality of life measured by the generic PedsQL™ Generic Core Scales(May 2022 - April 2025)
- Health related quality of life measured by the generic PedsQL™ Infant Scales(May 2022 - April 2025)
- Impact of pediatric chronic health condition on parents and the family by the PedsQL™ Family Impact Modules(May 2022 - April 2025)
研究者
Julia Hannah Quitmann
Principal Investigator
Universitätsklinikum Hamburg-Eppendorf