HomocystinuriaCBS_HrQoLNCT06556615
Health Related Quality of Life (HrQoL) in Classical Homocystinuria (CBS Deficiency)
An observational study of Homocystinuria, run by University Children's Hospital, Zurich at 1 site in Switzerland.
Trial summary
Patients, parents of young / handicapped patients, and experts will be interviewed to collect contents relevant for HrQoL in CBS deficiency. Based on these data, a questionnaire will be developed and tested for comprehensibility in patients and parents of young / handicapped patients. Read more about this study
- Who is it for?
- Ages 8 years and older
- Conditions the study is for
- Homocystinuria
- What is being tested?
- Interview
- Type of treatment
- Lifestyle or therapy programme
- How many people
- 80 participants
- Where
- 1 siteSwitzerland
- Study dates
- 15 Jan 2025to Sep 2025
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
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 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patients with CBS deficiency from age 8 years * Parents of patient(s) < 18 years with cognitive impairment * Parents of patients between age 4 and 7 * Experts on CBS deficiency
Who may be able to join
- Patients with CBS deficiency from age 8 years
- Parents of patient(s) < 18 years with cognitive impairment
- Parents of patients between age 4 and 7
- Experts on CBS deficiency
- Able to give informed consent as documented by signature
Who cannot join
- Sufficient command of the German or the English language
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Switzerland1 site, 1 recruiting
- Recruiting
Kinderspital Zürich
Zurich, 8008
Helene Werner, PhD, +41442490, helene.werner@kispi.uzh.ch
About this study
Official title: Development and Validation of a Standardized Assessment Instrument for Health-related Quality of Life (HrQoL) in Patients With Classical Homocystinuria
Patients, parents of young / handicapped patients, and experts will be interviewed to collect contents relevant for HrQoL in CBS deficiency. Based on these data, a questionnaire will be developed and tested for comprehensibility in patients and parents of young / handicapped patients. A final questionnaire version will be tested for psychometric criteria including validity and reliability.
- Conditions
- Homocystinuria
- Being tested
- Interview
- Medical subject headings
- Homocystinuria
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
InterviewBehavioural
Interviews, presentation of questionnaires
What is being measured
The primary outcome is the main question the study is designed to answer.
HrQol
Hrqol
Measured: through study completion, an average of 6 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted16 Aug 2024
- Study start15 Jan 2025
- Primary completionSep 2025 (estimated)
- Study completionSep 2025 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for HomocystinuriaStudies 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
- Prospective
- Enrolment
- 80 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University Children's Hospital, Zurich
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06556615
- Sponsor's protocol ID
- CBS_HrQol
- Acronym
- CBS_HrQoL
- Status last verified
- Apr 2025
- First submitted
- 5 Aug 2024
- Last updated
- 10 Apr 2025
- 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 10 Apr 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Development and Validation of a Standardized Assessment Instrument for Health-related Quality of Life (HrQoL) in Patients With Classical Homocystinuria
- ClinicalTrials.gov ID
- NCT06556615
- Acronym / sponsor ID
- CBS_HrQoL / CBS_HrQol
- Conditions
- Homocystinuria
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 80 participants (estimated)
- Lead sponsor
- University Children's Hospital, ZurichUniversity, hospital or other
- Study start
- 15 Jan 2025 (actual)
- Primary completion
- Sep 2025 (estimated)
- Study completion
- Sep 2025 (estimated)
- First posted
- 16 Aug 2024 (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.
Patients, parents of young / handicapped patients, and experts will be interviewed to collect contents relevant for HrQoL in CBS deficiency. Based on these data, a questionnaire will be developed and tested for comprehensibility in patients and parents of young / handicapped patients. A final questionnaire version will be tested for psychometric criteria including validity and reliability.
Study design
- Observational model
- Other
- Time perspective
- Prospective
Who may qualify
- Ages
- 8 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients with CBS deficiency from age 8 years * Parents of patient(s) < 18 years with cognitive impairment * Parents of patients between age 4 and 7 * Experts on CBS deficiency
Key inclusion criteria (5 listed)
- Patients with CBS deficiency from age 8 years
- Parents of patient(s) < 18 years with cognitive impairment
- Parents of patients between age 4 and 7
- Experts on CBS deficiency
- Able to give informed consent as documented by signature
Key exclusion criteria (1 listed)
- Sufficient command of the German or the English language
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| InterviewInterviews, presentation of questionnaires | Behavioural | – |
Primary outcome
HrQol
Time frame: through study completion, an average of 6 months
Hrqol
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 10 Apr 2025.
- 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.
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 Homocystinuria, run by University Children's Hospital, Zurich at 1 site in Switzerland.
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 5 inclusion and 1 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: looking for participants now, as of the sponsor's last update on 10 Apr 2025. 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 Switzerland. 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?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Helene Werner, PD, Dr (004144266 ext. 0, helene.werner@kispi.uzh.ch), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
HrQol (time frame: through study completion, an average of 6 months). 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 10 Apr 2025.