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

NCT06556615 | Recruiting

• 1 other identifier: CBS_HrQol
• Study Type: observational
• Target: 80
• Locations: 1 country
• Sites: 1

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 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.

Conditions

Homocystinuria

Outcome Measures

Primary Outcomes (1)

• HrQol

  Hrqol

  through study completion, an average of 6 months

Interventions

Interview BEHAVIORAL

Interviews, presentation of questionnaires

Eligibility Criteria

• Age: 8 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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

You may qualify if:

• 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

You may not qualify if:

• \- Sufficient command of the German or the English language

Sponsors & Collaborators

• University Children's Hospital, Zurich: lead

Study Sites (1)

Kinderspital Zürich

Zurich, 8008, Switzerland

RECRUITING

MeSH Terms

Conditions

Homocystinuria

Interventions

Interviews as Topic

Condition Hierarchy (Ancestors)

Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Hyperhomocysteinemia; Amino Acid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Connective Tissue Diseases; Skin and Connective Tissue Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases

Intervention Hierarchy (Ancestors)

Data Collection; Epidemiologic Methods; Investigative Techniques; Health Care Evaluation Mechanisms; Quality of Health Care; Health Care Quality, Access, and Evaluation; Public Health; Environment and Public Health

Central Study Contacts

Helene Werner, PD, Dr

CONTACT

004144266; helene.werner@kispi.uzh.ch

Martina Huemer, Prof

CONTACT

004144266; martina.huemer@kispi.uzh.ch

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: August 5, 2024
• First Posted: August 16, 2024
• Study Start: January 15, 2025
• Primary Completion: September 1, 2025
• Study Completion: September 1, 2025
• Last Updated: April 10, 2025

Record last verified: 2025-04

Data Sharing

• IPD Sharing: Will not share

Locations

CH (1)