Creating a quality of life tool for cystinosis patients

Development of a Patient-reported Outcome to Measure the Health-related Quality of Life of Children, Adolescents and Young Adults With Cystinosis.

Cystinose Stiftung · NCT05959668

This study is trying to create a new tool to help understand how cystinosis affects the quality of life for patients and their families.

Quick facts

Study typeObservational
Enrollment300 (estimated)
Ages8 Years to 26 Years
SexAll
SponsorCystinose Stiftung (other)
Locations1 site (Hamburg)
Trial IDNCT05959668 on ClinicalTrials.gov

What this trial studies

This study aims to develop a disease-specific patient-reported outcome measure (PROM) to assess the health-related quality of life for patients with cystinosis. It will involve three phases: conducting focus interviews with parents and young patients to identify relevant quality of life topics, pilot testing the instrument for comprehensibility and cultural relevance, and finally administering a refined questionnaire to a larger group for validation. The study will take place across multiple countries including Germany, France, Spain, and the USA, ensuring a diverse participant pool.

Who should consider this trial

Good fit: Ideal candidates include children, adolescents, and young adults aged 8-26 with a confirmed diagnosis of cystinosis, along with their parents.

Not a fit: Patients with severe cognitive impairment or other severe illnesses that significantly affect their daily life may not benefit from this study.

Why it matters

Potential benefit: If successful, this study could provide a validated tool to better understand and improve the quality of life for patients with cystinosis.

How similar studies have performed: While there have been studies on quality of life in other conditions, the development of a specific PROM for cystinosis is a novel approach.

Eligibility criteria

Show full inclusion / exclusion 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

Where this trial is running

Hamburg

Study contacts

How to participate

  1. Review the eligibility criteria above with your treating physician.
  2. Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
  3. Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.

View on ClinicalTrials.gov →

Conditions: Cystinosis, Health-related quality of life, Patient-reported outcome measure

Last reviewed 2026-05-15 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.