Recruiting

NCT Number: NCT06556615

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

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.

Recruiting

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Key information

Conditions

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

Age range

8 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Kinderspital Zürich

Zurich, 8008, Switzerland

Location status: Recruiting

Location contact

Helene Werner, PhD

CONTACT

[email protected]

+41442490

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Interview

Behavioral

Interviews, presentation of questionnaires

Primary outcomes

HrQol

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

Hrqol

Study contacts

Contact information is provided by the study sponsor or research team.

Helene Werner, PD, Dr

CONTACT

[email protected]

004144266

Martina Huemer, Prof

CONTACT

[email protected]

004144266

Sponsors and collaborators

Lead sponsor

University Children's Hospital, Zurich

Other

Registry information

Official study title

Development and Validation of a Standardized Assessment Instrument for Health-related Quality of Life (HrQoL) in Patients With Classical Homocystinuria

Acronym: CBS_HrQoL

Important dates

Study start: 2025
Primary completion: 2025
Study completion: 2025
First posted: Aug 16, 2024
Registry last updated: Apr 10, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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