RecruitingNot Applicable

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

Switzerland80 participantsStarted 2025-01-15

Plain-language 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 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.

Who can participate

Age range8 Years

SexALL

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AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

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

What they're measuring

HrQol

Timeframe: through study completion, an average of 6 months

Trial details

NCT IDNCT06556615

SponsorUniversity Children's Hospital, Zurich

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2025-09

Contact for this trial

Helene Werner, PD, Dr

004144266 helene.werner@kispi.uzh.ch

View on ClinicalTrials.gov More Homocystinuria trials