Assessing Quality of Life in Patients with Classical Homocystinuria
Development and Validation of a Standardized Assessment Instrument for Health-related Quality of Life (HrQoL) in Patients With Classical Homocystinuria
This study is trying to understand how classical homocystinuria affects the daily lives of patients and their families by talking to them and creating a questionnaire to measure their quality of life.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 80 (estimated) |
| Ages | 8 Years and up |
| Sex | All |
| Sponsor | University Children's Hospital, Zurich Academic / other |
| Locations | 1 site (Zurich) |
| Trial ID | NCT06556615 on ClinicalTrials.gov |
What this trial studies
This observational study aims to gather insights on health-related quality of life (HrQoL) for individuals with classical homocystinuria, specifically focusing on CBS deficiency. It involves interviews with patients, their parents, and experts to identify relevant content for developing a comprehensive questionnaire. The questionnaire will undergo testing for comprehensibility and will be evaluated for psychometric properties such as validity and reliability. The goal is to create a tool that accurately reflects the quality of life for affected individuals and their families.
Who should consider this trial
Good fit: Ideal candidates include patients aged 8 years and older with CBS deficiency, as well as parents of younger patients with cognitive impairments.
Not a fit: Patients who do not speak German or English may not benefit from this study due to language requirements.
Why it matters
Potential benefit: If successful, this study could lead to a validated questionnaire that helps improve the understanding and management of quality of life in patients with CBS deficiency.
How similar studies have performed: While there may be similar studies focusing on quality of life in other conditions, this specific approach to CBS deficiency is relatively novel.
Eligibility criteria
Show full inclusion / exclusion 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
Where this trial is running
Zurich
- Kinderspital Zürich — Zurich, Switzerland (Recruiting)
Study contacts
- Study coordinator: Helene Werner, PD, Dr
- Email: helene.werner@kispi.uzh.ch
- Phone: 004144266
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.