Clinical trial NCT05959668: Development of Health-related Quality of Life Instrument for Patients With Cystinosis
Official title: Development of a Patient-reported Outcome to Measure the Health-related Quality of Life of Children, Adolescents and Young Adults With Cystinosis.
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Cystinosis
Keywords: Health-related quality of life
Cystinosis
Patient-reported outcome measure
Lead sponsor: Cystinose Stiftung
Sponsor class: OTHER
Collaborators: name: Cystinosis Research Network
name: Leben eben! Cystinose-Selbsthilfe e.V.
First posted: 2023-07-25
Enrollment: 300
Sex: ALL
Minimum age (years): 8
Maximum age (years): 26
Standard ages: CHILD
ADULT
Accepts healthy volunteers: no
Observational model: OTHER
Time perspective: OTHER
Sampling method: NON_PROBABILITY_SAMPLE
Study population: The participants will be recruited by the Interdisciplinary Cystinosis Clinic in Rosenheim 'RoMed' clinics, the German Cystinosis Foundation, the Cystinosis Research Network, the Asociación Cistinosis Espana, the Necker-Enfants Malades Hospital, the Hospices Civils de Lyon and the VML - Vaincre les Maladies Lysosomales

Brief summary: 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.

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

Primary outcomes:
measure: Semi-structured interviews with young patients with cystinosis and their parents to identify relevant aspects of disease-specific HrQoL
timeFrame: January 2023 - May 2024
measure: Pilot-test version including a cognitive debriefing to assess the preliminary disease-specific HrQoL tool (QUALIFY) for young people with cystinosis
timeFrame: March 2024 - August 2024
measure: Field-test and of the final version of the disease-specific HrQoL tool (QUALIFY) for young people with cystinosis
timeFrame: September 2024 - April 2025
Secondary outcomes:
measure: Health related quality of life measured by the chronic-generic DISABKIDS Questionnaire
timeFrame: May 2022 - April 2025
measure: Health related quality of life measured by the generic PedsQL™ Generic Core Scales
timeFrame: May 2022 - April 2025
measure: Health related quality of life measured by the generic PedsQL™ Infant Scales
timeFrame: May 2022 - April 2025
measure: Impact of pediatric chronic health condition on parents and the family by the PedsQL™ Family Impact Modules
timeFrame: May 2022 - April 2025
measure: Health related quality of life measured by the newly developed (disease-specific) PROM
timeFrame: September 2024 - April 2025
Other outcomes:
Locations:
city: Hamburg
country: Germany
facility: University Medical Center Hamburg-Eppendorf | Center for Psychosocial Medicine | Department of Medical Psychology
Study officials:
affiliation: Department of Medical Psychology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany
name: Julia Hannah Quitmann, PD Dr.
role: STUDY_DIRECTOR
References: