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

University of Zurich (UZH)

Status: Not yet enrolling

Conditions: Homocystinuria

Treatments: Behavioral: Interview

Study type: Observational

Funder types: Other

Identifiers

NCT06556615

CBS_HrQol

Details and patient eligibility

About

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.

Enrollment: 80 estimated patients

Sex: All

Ages: 8+ years old

Volunteers: No Healthy Volunteers

Inclusion and 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