Psychosocial Distress and Quality of Life in CDKN2A Pathogenic Variant Carriers and their first-degree relatives

Psychosocial Distress and Quality of Life in CDKN2A Pathogenic Variant Carriers and their first-degree relatives - PSI-CDKN2A

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON53436

Enrollment

500

Registered

2023-01-25

Start date

2023-02-03

Completion date

Unknown

Last updated

2026-05-11

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

CDKN2A P16-Leiden

Interventions

None listed

Eligibility

Age

18 Years to 99 Years

Inclusion criteria

Inclusion criteria: - 18 years or older - Written informed consent - Proven CDKN2A PV carrier (confirmed by positive genetic test result) OR - CDKN2A risk carrier (50% chance of carrying the PV; genetic status not [yet] confirmed by genetic testing) - Participation in the LUMC skin and/or pancreatic surveillance program

Exclusion criteria

Exclusion criteria: Individuals that are not able to read or understand Dutch will be excluded from participation in this study.

Design outcomes

Primary

Measure	Time frame
First, the questionnaire aims to explore the psychological distress and quality of life by validated questionnaires including CWS, HADS, and SF-12. Second, the psychosocial impact on lifestyle, genetic testing, skin and pancreatic surveillance, and family planning is examined by both self-developed and validated questionnaires (PAHC, DCS). Our primary objectives are: - To investigate the quality of life and psychological distress in CDKN2A PV carriers and their first-degree relatives; - To assess the psychosocial impact of the CDKN2A PV on daily life, with regards to the following four themes: 1) lifestyle, 2) genetic testing, 3) skin and pancreatic screening, and 4) family planning.	—

Measure

Time frame

First, the questionnaire aims to explore the psychological distress and quality of life by validated questionnaires including CWS, HADS, and SF-12. Second, the psychosocial impact on lifestyle, genetic testing, skin and pancreatic surveillance, and family planning is examined by both self-developed and validated questionnaires (PAHC, DCS). Our primary objectives are: - To investigate the quality of life and psychological distress in CDKN2A PV carriers and their first-degree relatives; - To assess the psychosocial impact of the CDKN2A PV on daily life, with regards to the following four themes: 1) lifestyle, 2) genetic testing, 3) skin and pancreatic screening, and 4) family planning.

—

Secondary

Measure	Time frame
- To investigate whether psychosocial outcomes differ between CDKN2A PV carriers and first-degree relatives; - To identify individuals who may benefit from additional psychological support. - To develop a website and decision aid to help PV carriers and first-degree relatives with complex choices associated with the PV, such as engagement in genetic testing and cancer screening, lifestyle, and family planning.	—

Measure

Time frame

- To investigate whether psychosocial outcomes differ between CDKN2A PV carriers and first-degree relatives; - To identify individuals who may benefit from additional psychological support. - To develop a website and decision aid to help PV carriers and first-degree relatives with complex choices associated with the PV, such as engagement in genetic testing and cancer screening, lifestyle, and family planning.

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Countries

Netherlands

Outcome results