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

NCT05959668 | Recruiting

• 1 other identifier: 2205-QUAL-3291
• Study Type: observational
• Target: 300
• Locations: 1 country
• Sites: 1

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.

Conditions

Cystinosis

Keywords

Health-related quality of life; Cystinosis; Patient-reported outcome measure

Outcome Measures

Primary Outcomes (3)

• Semi-structured interviews with young patients with cystinosis and their parents to identify relevant aspects of disease-specific HrQoL

  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.

  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

  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.

  March 2024 - August 2024

• Field-test and of the final version of the disease-specific HrQoL tool (QUALIFY) for young people with cystinosis

  A field- and re-test for psychometric assessment of the final version of the QUALIFY questionnaire is performed.

  September 2024 - April 2025

Secondary Outcomes (5)

• 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

• Health related quality of life measured by the newly developed (disease-specific) PROM

  September 2024 - April 2025

Study Arms (1)

Children, adolescents and young adults with cystinosis and their parents

Depending on the patient's age, different HrQoL aspects are more relevant in cystinosis patients and their families. Therefore, a division based on age groups is needed to measure and interpret HrQoL measures successfully: Age group stratification will include young patients aged 8-12, 13-17 and 18-26 for a self-reported version and children and adolescents aged 0-4, 5-7, 8-12, 13-17, 18-26 for a parent-reported version.

Eligibility Criteria

• Age: 8 Years - 26 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• 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

You may qualify if:

• 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

You may not qualify if:

• severe cognitive impairment
• other severe illnesses that strongly determine everyday life

Sponsors & Collaborators

• Cystinose Stiftung: lead
• Cystinosis Research Network: collaborator
• Leben eben! Cystinose-Selbsthilfe e.V.: collaborator

Study Sites (1)

University Medical Center Hamburg-Eppendorf | Center for Psychosocial Medicine | Department of Medical Psychology

Hamburg, 20246, Germany

RECRUITING

MeSH Terms

Conditions

Cystinosis

Condition Hierarchy (Ancestors)

Lysosomal Storage Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Julia Hannah Quitmann, PD Dr.

  Department of Medical Psychology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany

  STUDY DIRECTOR

Central Study Contacts

Julia Hannah Quitmann, PD Dr.

CONTACT

+49 (0) 40 7410 52789; j.quitmann@uke.de

Katharina Hohenfellner, PD Dr. med.

CONTACT

+49 (0861) 70532262; Katharina.Hohenfellner@ro-med.de

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: OTHER
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principal Investigator

Study Record Dates

• First Submitted: May 11, 2023
• First Posted: July 25, 2023
• Study Start: May 1, 2022
• Primary Completion: May 31, 2025
• Study Completion: May 31, 2025
• Last Updated: August 22, 2024

Record last verified: 2024-08

Data Sharing

• IPD Sharing: Will not share

Locations

DE (1)