Li-Fraumeni-Syndrom Pathogenic TP53 germline variant Fanconi Anemia ORPHA:84 ORPHA:524 C97 Z80 D61.0
Conditions
Interventions
Group 1: Adults and children (aged 12 years and older) with Li-Fraumeni syndrome (LFS) or Fanconi anaemia (FA) and their relatives. Participants can take part in a questionnaire survey and/or intervie
Sponsors
Universitätsklinikum Würzburg
Eligibility
Sex/Gender
All
Age
12 Years to No maximum
Inclusion criteria
Inclusion criteria: - Adults with Li-Fraumeni syndrome (Li-Fraumeni spectrum) or Fanconi anaemia and children and adolescents (aged 12 years and older) with Li-Fraumeni syndrome (Li-Fraumeni spectrum) or Fanconi anaemia - Relatives of affected individuals aged 12 and over (e.g. partners, children, siblings, close relatives) - Written consent from both parents or legal guardians is required for minors to take part - Mother tongue German or very good knowledge of German - Informed written consent to participate in the study - Access to a device with internet access (e.g. computer, smart phone)
Exclusion criteria
Exclusion criteria: - Unclassified variant in the TP53 gene (VUS) (applies to LFS patients only) - Missing signed informed consent - Lack of capacity to give informed consent (a signed informed consent form from a legal guardian is required for children in all phases of the study) - Children and adolescents under 12 years of age - Insufficient knowledge of German - Physical or mental impairments which make it seem impossible to participate in the study
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| The aims of the study are a) To assess the psychosocial wellbeing and psychosocial support needs of people with LFS/FA and their families b) To design a family-centred supportive care intervention c) To analyse the feasibility and compliance of the family-centred supportive care intervention Questionnaires, semi-structured interviews and Group Delphis will be used. Outcomes and questionnaires (adults) - Health-related quality of life (FACT-G, FACT-G Caregiver, FACT-GP) - Health-related quality of life - parent version (KIDSCREEN) - Impairment due to physical and psychological factors (BSI) - Fear of progression (PA-F-KF, PA-F-KF/E) - Family functioning (FAD-GA51 GF) - Coping with illness (EFK) - Posttraumatic growth (PTGI) - Supportive care needs (SCNS, SCNS P&C-G) Outcomes and questionnaires (Children & Adolescents 12 years and older) - Health-Related Quality of Life (KIDSCREEN) - Emotional and psychological problems (BPM-Y 11-18) - Anxiety (PA-F-KF/K) -Family functioning (FAD-GA51 GF) -Coping (KidCOPE) -Resilience/Sense-making (BFSC) The questionnaires mentioned are used for the psychosocial needs analysis. This is a cross-sectional analysis. | — |
Countries
Germany
Contacts
Public ContactImad Maatouk
Universitätsklinikum Würzburg
Outcome results
None listed