Translational Research for Persons with Abnormal DNA Damage Response

Recruiting

Conditions: Fanconi anemiaLi-Fraumeni-SyndromeAtaxia TeleangiectasiaBloom SyndromeDNA Ligase IV DeficiencyConstitutional Mismatch Repair DeficiencyNijmegen Breakage SyndromeRothmund-Thomson SyndromeWerner SyndromeXeroderma PigmentosumDyskeratosis congenita

Registration Number: DRKS00021039

Lead Sponsor: Pädiatrische Hämatologie und OnkologieMedizinische Hochschule Hannover

Brief Summary: Not available

Detailed Description: Not available

Recruitment & Eligibility

Status: Recruiting

Sex: All

Target Recruitment: 200

Inclusion Criteria

Diagnosis of a cancer predisposition syndrome with underlying DNA repair defect
- or: Related person (relative, partner, close person of an LFS victim)
- Existence of a written consent to participate in the study

Exclusion Criteria

Lack of consent, inability to consent

Study & Design

Study Type: observational

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Development of cancer, development of non-malignant complications, physical abnormalities, death

Secondary Outcome Measures

Name	Time	Method
- Creation of an infrastructure that facilitates the exchange of information, coordination of consultation and input of medical patient data for patients and medical professionals.<br>- Investigation of the molecular causes of diseases with DNA repair defects.<br>- Promote psychosocial support in an evidence-based way.<br>- Improve early cancer detection through MRI imaging.<br>- Identification of genetic traits in patients with DNA repair defects.<br>- Developing preclinical models to find new therapies for patients with DNA repair defect associated cancer that can be tested in early clinical trials.