Assessing Quality of Life in Patients with Classical Homocystinuria
Official title: Development and Validation of a Standardized Assessment Instrument for Health-related Quality of Life (HrQoL) in Patients With Classical Homocystinuria
Run by University Children's Hospital, Zurich · NCT06556615 · Data updated 2026-11-12
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 |
|---|---|
| Ages | 8 Years and up |
| Sex | All |
| Enrollment | 80 (estimated) |
| Sponsor | University Children's Hospital, Zurich Academic / other |
| Locations | 1 site (Zurich) |
| Status | Recruiting |
| Started | January 15, 2025 |
| Main results expected | September 2025 |
| Study ends | September 2025 |
| Registry record updated | April 10, 2025 |
| Trial ID | NCT06556615 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates include patients aged 8 years and older with CBS deficiency, as well as parents of younger patients with cognitive impairments.
✕Probably not a fit
Patients who do not speak German or English may not benefit from this study due to language requirements.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
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.
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 gone: While there may be similar studies focusing on quality of life in other conditions, this specific approach to CBS deficiency is relatively novel.
Who can join: the full rules
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 it's running
-
Kinderspital Zürich
Zurich, Switzerland Recruiting
Study contacts
- Study coordinator: Helene Werner, PD, Dr
- Email: helene.werner@kispi.uzh.ch
- Phone: 004144266
Similar studies
Other studies for the same condition or treatment. Recruiting studies are listed first.
-
Pegtibatinase versus placebo for people 12–65 with classical CBS‑deficient homocystinuria on standard care
This trial tests whether pegtibatinase is safe and can lower homocysteine levels in people aged 12–65 with classical homocystinuria who are already receiving standard treatment.
-
Pegtibatinase for Classical Homocystinuria
This study tests pegtibatinase to see if it is safe and tolerable for people with classical homocystinuria, including children aged 5 and up who have high levels of homocysteine.
How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.