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

April 9, 2025 updated by: University Children's Hospital, Zurich

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

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.

Study Overview

Status

Recruiting

Conditions

Intervention / Treatment

Study Type

Observational

Enrollment (Estimated)

80

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact Backup

Study Locations

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

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

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
HrQol
Time Frame: through study completion, an average of 6 months
Hrqol
through study completion, an average of 6 months

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

University Children's Hospital, Zurich

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

January 15, 2025

Primary Completion (Estimated)

September 1, 2025

Study Completion (Estimated)

September 1, 2025

Study Registration Dates

First Submitted

August 5, 2024

First Submitted That Met QC Criteria

August 13, 2024

First Posted (Actual)

August 16, 2024

Study Record Updates

Last Update Posted (Actual)

April 10, 2025

Last Update Submitted That Met QC Criteria

April 9, 2025

Last Verified

April 1, 2025

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • CBS_HrQol

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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