Development of Health-related Quality of Life Instrument for Patients With Cystinosis
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: Cystinosis. Basic parameters: 8 years — 26 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- Germany
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Official title
Development of a Patient-reported Outcome to Measure the Health-related Quality of Life of Children, Adolescents and Young Adults With Cystinosis.
Overview
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.
Detailed description
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.
1. 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. 2. 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. 3. 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.
Primary outcome measures
- Semi-structured interviews with young patients with cystinosis and their parents to identify relevant aspects of disease-specific HrQoL [Time frame: January 2023 - May 2024]
- Pilot-test version including a cognitive debriefing to assess the preliminary disease-specific HrQoL tool (QUALIFY) for young people with cystinosis [Time frame: March 2024 - August 2024]
- Field-test and of the final version of the disease-specific HrQoL tool (QUALIFY) for young people with cystinosis [Time frame: September 2024 - April 2025]
Secondary outcome measures (5)
- Health related quality of life measured by the chronic-generic DISABKIDS Questionnaire [Time frame: May 2022 - April 2025]
- Health related quality of life measured by the generic PedsQL™ Generic Core Scales [Time frame: May 2022 - April 2025]
- Health related quality of life measured by the generic PedsQL™ Infant Scales [Time frame: May 2022 - April 2025]
- Impact of pediatric chronic health condition on parents and the family by the PedsQL™ Family Impact Modules [Time frame: May 2022 - April 2025]
- Health related quality of life measured by the newly developed (disease-specific) PROM [Time frame: September 2024 - April 2025]
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
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Other
Study locations
Germany · 1 center
- University Medical Center Hamburg-Eppendorf | Center for Psychosocial Medicine | Departmen — Hamburg
Identifiers
NCT: NCT05959668 · 2205-QUAL-3291