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

University Children's Hospital, Zurich80 enrolled

Overview

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 Type

OBSERVATIONAL

Enrollment

Conditions

Homocystinuria

Interventions

InterviewBEHAVIORAL

Interviews, presentation of questionnaires

Eligibility

Sex: ALLMin age: 8 Years

Medical Language ↔ Plain English

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

Locations (1)

Kinderspital Zürich

Zurich, Switzerland

RECRUITING

Outcomes

Primary Outcomes

HrQol

Hrqol

Time frame: through study completion, an average of 6 months

Central Contacts

Helene Werner, PD, Dr

CONTACT

004144266 helene.werner@kispi.uzh.ch

Martina Huemer, Prof

CONTACT

004144266 martina.huemer@kispi.uzh.ch

Data from ClinicalTrials.gov

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