CystinosisQUALIFYNCT05959668
Development of Health-related Quality of Life Instrument for Patients With Cystinosis
An observational study of Cystinosis, run by Cystinose Stiftung at 1 site in Germany.
Trial 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… Read more about this study
- Who is it for?
- Ages 8 to 26 years
- Conditions the study is for
- Cystinosis
- How many people
- 300 participants
- Where
- 1 siteGermany
- Study dates
- 1 May 2022to 31 May 2025
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 8 to 26 years
- All sexes
- No healthy volunteers
- Child, Adult
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
Who may be able to join
None listed.
Who cannot join
- severe cognitive impairment
- other severe illnesses that strongly determine everyday life
Trial locations and contacts
1 site in 1 country.
Germany1 site, 1 recruiting
- Recruiting
University Medical Center Hamburg-Eppendorf | Center for Psychosocial Medicine | Department of Medical Psychology
Hamburg, 20246
Julia Hannah Quitmann, PD Dr., +49 (0) 40 7410 52789, j.quitmann@uke.de
About this study
Official title: Development of a Patient-reported Outcome to Measure the Health-related Quality of Life of Children, Adolescents and Young Adults With Cystinosis.
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.
Read the 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.
- 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.
- Conditions
- Cystinosis
- Keywords
- Health-related quality of life, Cystinosis, Patient-reported outcome measure
- Medical subject headings
- Cystinosis
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 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. |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 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.
Measured: 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.
Measured: September 2024 - April 2025
Secondary outcomes (5)
Health related quality of life measured by the chronic-generic DISABKIDS Questionnaire
The 12-item short form of the DISABKIDS Questionnaire is used to assess the HrQoL of children and adolescents with chronic medical conditions from their own as well as their parents' perspectives. The questionnaire consists of three domains: Mental (4 items), social (4 items) and physical (4 items). One composite score can be calculated.
Higher scores indicate better HrQoL.
Measured: May 2022 - April 2025
Health related quality of life measured by the generic PedsQL™ Generic Core Scales
For the age group 2-4 years, the generic HrQoL of toddlers is assessed via parent report. It consists of 21 items and describes 4 dimensions (Physical Functioning (8 items) Emotional Functioning (5 items) Social Functioning, (5 items), School Functioning (3 items)). The following Scores can be computed: Total Scale Score (21 items); Physical Health Summary Score (8 items); Psychosocial Health Summary Score (15 items).
The 23-item PedsQL™ Generic Core Scales measure generic HrQoL in children, adolescents, and young adults in self-report as well as proxy report. There are four multidimensional scales (Physical Functioning (8 items) Emotional Functioning (5 items) Social Functioning, (5 items), School Functioning (5 items)) and three summary scores: Total Scale Score (23 items); Physical Health Summary Score (8 items); Psychosocial Health Summary Score (15 items).
In both versions, scores are transformed to a 0 to 100 scale and higher scores indicate better HrQoL.
Measured: May 2022 - April 2025
Health related quality of life measured by the generic PedsQL™ Infant Scales
The PedsQL™ Infant Scales measure generic HrQoL in infants aged 1-12 and 13-24 months in proxy report.
The version for infants ages 1-12 months consists of 36 items. There are five multidimensional scales (Physical Functioning (6 items), Physical Symptoms (10 items), Emotional Functioning (12 items) Social Functioning, (4 items), Cognitive Functioning (4 items)).
The version for infants ages 13-24 months consists of 45 items. There are five multidimensional scales (Physical Functioning (9 items), Physical Symptoms (10 items), Emotional Functioning (12 items) Social Functioning, (5 items), Cognitive Functioning (9 items)).
In both versions, scores are transformed to a 0 to 100 scale and higher scores indicate better HrQoL. Three summary scores can be calculated: Total Scale Score (all items); Physical Health Summary Score (using items of Physical Functioning and Physical Symptoms); Psychosocial Health Summary Score (Emotional, Social, and Cognitive Functioning items).
Measured: May 2022 - April 2025
Impact of pediatric chronic health condition on parents and the family by the PedsQL™ Family Impact Modules
The 36-item PedsQL™ Family Impact Module describes 8 dimensions: parent self-reported physical functioning (6 items), emotional functioning (5 items), social functioning (4 items), and cognitive functioning (5 items), communication (3 items), worry (5 items), as well as parent-reported family daily activities (3 items) and family relationships (5 items).
Scores are transformed to a 0 to 100 scale. Higher scores indicate better functioning.
Three summary scores can be calculated: Total Scale Score (36 items); Parent HrQoL Summary Score (20 items); Family Functioning Score (8 items).
Measured: May 2022 - April 2025
Health related quality of life measured by the newly developed (disease-specific) PROM
The newly developed QUALIFY questionnaire will assess disease-specific HrQoL of young people living wiht cystinosis.
Higher scores will indicate better HrQoL.
Measured: September 2024 - April 2025
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted25 Jul 2023
- Study start1 May 2022
- Primary completion31 May 2025 (estimated)
- Study completion31 May 2025 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for CystinosisStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Other
- Time perspective
- Other
- Enrolment
- 300 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Cystinose Stiftung
- Sponsor type
- University, hospital or other
- Collaborators
- Cystinosis Research Network, Leben eben! Cystinose-Selbsthilfe e.V.
- Responsible party
- Principal investigator, Julia Hannah Quitmann, Universitätsklinikum Hamburg-Eppendorf
- Investigators
- Julia Hannah Quitmann, PD Dr., Study director, Department of Medical Psychology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05959668
- Sponsor's protocol ID
- 2205-QUAL-3291
- Acronym
- QUALIFY
- Status last verified
- Aug 2024
- First submitted
- 11 May 2023
- Last updated
- 22 Aug 2024
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 22 Aug 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Development of a Patient-reported Outcome to Measure the Health-related Quality of Life of Children, Adolescents and Young Adults With Cystinosis.
- ClinicalTrials.gov ID
- NCT05959668
- Acronym / sponsor ID
- QUALIFY / 2205-QUAL-3291
- Conditions
- Cystinosis
- Keywords
- Health-related quality of life, Cystinosis, Patient-reported outcome measure
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 300 participants (estimated)
- Lead sponsor
- Cystinose StiftungUniversity, hospital or other
- Collaborators
- Cystinosis Research Network, Leben eben! Cystinose-Selbsthilfe e.V.
- Study start
- 1 May 2022 (actual)
- Primary completion
- 31 May 2025 (estimated)
- Study completion
- 31 May 2025 (estimated)
- First posted
- 25 Jul 2023 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
- 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.
Study design
- Observational model
- Other
- Time perspective
- Other
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| 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. |
Who may qualify
- Ages
- 8 to 26 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- 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
Key inclusion criteria (0 listed)
Key exclusion criteria (2 listed)
- severe cognitive impairment
- other severe illnesses that strongly determine everyday life
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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
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.
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
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.
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
A field- and re-test for psychometric assessment of the final version of the QUALIFY questionnaire is performed.
5 secondary outcomes
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
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 22 Aug 2024.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Julia Hannah Quitmann, PD Dr. study director
Department of Medical Psychology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Cystinosis, run by Cystinose Stiftung at 1 site in Germany.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 0 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 22 Aug 2024. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Germany. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Julia Hannah Quitmann, PD Dr. (+49 (0) 40 7410 52789, j.quitmann@uke.de), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
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). The study lists 3 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 22 Aug 2024.