Psychosocial Distress and Quality of Life in CDKN2A Pathogenic Variant Carriers and their first-degree relatives
Recruiting
- Conditions
- CDKN2A P16-Leiden100276641000286110016214
- Registration Number
- NL-OMON53436
- Lead Sponsor
- eids Universitair Medisch Centrum
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Recruiting
- Sex
- Not specified
- Target Recruitment
- 500
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
Individuals that are not able to read or understand Dutch will be excluded from
participation in this study.
Study & Design
- Study Type
- Observational non invasive
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method <p>First, the questionnaire aims to explore the psychological distress and quality<br /><br>of life by validated questionnaires including CWS, HADS, and SF-12. Second, the<br /><br>psychosocial impact on lifestyle, genetic testing, skin and pancreatic<br /><br>surveillance, and family planning is examined by both self-developed and<br /><br>validated questionnaires (PAHC, DCS).<br /><br><br /><br>Our primary objectives are:<br /><br>- To investigate the quality of life and psychological distress in CDKN2A PV<br /><br>carriers and their first-degree relatives;<br /><br>- To assess the psychosocial impact of the CDKN2A PV on daily life, with<br /><br>regards to the following four themes: 1) lifestyle, 2) genetic testing, 3) skin<br /><br>and pancreatic screening, and 4) family planning.</p><br>
- Secondary Outcome Measures
Name Time Method <p>- To investigate whether psychosocial outcomes differ between CDKN2A PV<br /><br>carriers and first-degree relatives;<br /><br>- To identify individuals who may benefit from additional psychological support.<br /><br>- To develop a website and decision aid to help PV carriers and first-degree<br /><br>relatives with complex choices associated with the PV, such as engagement in<br /><br>genetic testing and cancer screening, lifestyle, and family planning. </p><br>