Health Related Quality of Life (HrQoL) in Classical Homoc... | NCT06556615

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

NCT06556615

Sponsor

University Children's Hospital, Zurich

Status

Recruiting

Last Update Posted

Apr 10, 2025Actual

Enrollment

80Estimated

Phase

Not provided

Conditions

Homocystinuria

Interventions

Interview

Countries

Switzerland

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

Status Module

Record Verification Date

Apr 2025

Overall Recruitment Status or Expanded Access Status

Recruiting

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Jan 15, 2025Actual

Primary Completion Date

Sep 2025Estimated

Completion Date

Sep 2025Estimated

First Submitted Date

Aug 5, 2024

First Submission Date that Met QC Criteria

Aug 13, 2024

First Posted Date

Aug 16, 2024Actual

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Apr 9, 2025

Last Update Posted Date

Apr 10, 2025Actual

Oversight Module

Has Data Monitoring Committee (DMC)

Is FDA Regulated Drug

Is FDA Regulated Device

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

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.

Detailed Description

Not provided

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

No data available

No data is available for this block.

Enrollment

80Estimated

Name	Type	Description	Arm Group Labels	Other Names
Interview	Behavioral	Interviews, presentation of questionnaires

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
HrQol	Hrqol	through study completion, an average of 6 months

Secondary Outcomes

Not provided

Other Outcomes

Not provided

Eligibility Module

Eligibility 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

Accepts Healthy Volunteers

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

8 Years

Maximum Age

Not provided

Standard Ages

ChildAdultOlder Adult

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

Sampling Method

Non-Probability Sample

Contacts/Locations Module

Central Contacts

Name	Role	Phone	Extension	Email
Helene Werner, PD, Dr	Contact	004144266	0	helene.werner@kispi.uzh.ch
Martina Huemer, Prof	Contact	004144266	0	martina.huemer@kispi.uzh.ch

Overall Officials

Not provided

Locations

Facility	Status	City	State	ZIP	Country	Contacts
Kinderspital Zürich	Recruiting	Zurich		8008	Switzerland

IPD Sharing Statement Module

Plan to Share IPD

Description

Not provided

Types

Not provided

Time Frame

Not provided

Access Criteria

Not provided

URL

Not provided

Condition Browse Module

MeSH Terms

ID	Term
D006712	Homocystinuria

Ancestor Terms

ID	Term
D020739	Brain Diseases, Metabolic, Inborn
D001928	Brain Diseases, Metabolic
D001927	Brain Diseases
D002493	Central Nervous System Diseases

Browse Leaves

Not provided

Browse Branches

Not provided

Intervention Browse Module

MeSH Terms

ID	Term
D007407	Interviews as Topic

Ancestor Terms

ID	Term
D003625	Data Collection
D004812	Epidemiologic Methods
D008919	Investigative Techniques
D017531	Health Care Evaluation Mechanisms

Browse Leaves

Not provided

Browse Branches

Not provided