Status:

RECRUITING

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

Lead Sponsor:

University Children's Hospital, Zurich

Conditions:

Homocystinuria

Eligibility:

All Genders

8+ years

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 ...

Eligibility Criteria

Inclusion

  • 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

Exclusion

    Key Trial Info

    Start Date :

    January 15 2025

    Trial Type :

    OBSERVATIONAL

    Allocation :

    ESTIMATED

    End Date :

    September 1 2025

    Estimated Enrollment :

    80 Patients enrolled

    Trial Details

    Trial ID

    NCT06556615

    Start Date

    January 15 2025

    End Date

    September 1 2025

    Last Update

    April 10 2025

    Active Locations (1)

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    1

    Kinderspital Zürich

    Zurich, Switzerland, 8008