Health Related Quality of Life (HrQoL) in Classical Homocystinuria (CBS Deficiency)
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: Interview.
- Who it may be relevant to
- Registry conditions: Homocystinuria. Basic parameters: from 8 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- Switzerland
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Official title
Development and Validation of a Standardized Assessment Instrument for Health-related Quality of Life (HrQoL) in Patients With Classical Homocystinuria
Overview
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.
Interventions
- Behavioral Interview
Interviews, presentation of questionnaires
Primary outcome measures
- HrQol [Time frame: through study completion, an average of 6 months]
Eligibility criteria
Inclusion criteria
- 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
Exclusion criteria
\- Sufficient command of the German or the English language
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Other
Study locations
Switzerland · 1 center
- Kinderspital Zürich — Zurich
Identifiers
NCT: NCT06556615 · CBS_HrQol