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

NCT ID: NCT06556615

Last Updated: 2025-04-10

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

80 participants

Study Classification

OBSERVATIONAL

Study Start Date

2025-01-15

Study Completion Date

2025-09-30

Brief Summary

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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.

Detailed Description

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Conditions

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Homocystinuria

Study Design

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Observational Model Type

OTHER

Study Time Perspective

PROSPECTIVE

Interventions

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Interview

Interviews, presentation of questionnaires

Intervention Type BEHAVIORAL

Eligibility Criteria

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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
Minimum Eligible Age

8 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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University Children's Hospital, Zurich

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Locations

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Kinderspital Zürich

Zurich, , Switzerland

Site Status RECRUITING

Countries

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Switzerland

Central Contacts

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Helene Werner, PD, Dr

Role: CONTACT

004144266 ext. 0

Martina Huemer, Prof

Role: CONTACT

004144266 ext. 0

Facility Contacts

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Helene Werner, PhD

Role: primary

+41442490

Other Identifiers

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CBS_HrQol

Identifier Type: -

Identifier Source: org_study_id

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