Health Related Quality of Life (HrQoL) in Classical Homocystinuria (CBS Deficiency)

Development and Validation of a Standardized Assessment Instrument for Health-related Quality of Life (HrQoL) in Patients With Classical Homocystinuria

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT06556615

Acronym

CBS_HrQoL

Enrollment

Registered

2024-08-16

Start date

2025-01-15

Completion date

2025-09-30

Last updated

2025-04-10

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Homocystinuria

Brief 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. A final questionnaire version will be tested for psychometric criteria including validity and reliability.

Interventions

BEHAVIORALInterview

Interviews, presentation of questionnaires

Study design

Observational model

OTHER

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

8 Years to No maximum

Healthy volunteers

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

Design outcomes

Primary

Measure	Time frame	Description
HrQol	through study completion, an average of 6 months	Hrqol

Countries

Switzerland

Contacts

Primary ContactHelene Werner, PD, Dr

helene.werner@kispi.uzh.ch004144266

Backup ContactMartina Huemer, Prof

martina.huemer@kispi.uzh.ch004144266

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Feb 4, 2026