Clinical trial

Diagnostic Value of Exome and Genome Sequencing as Well as Conventional Methods in Rare Diseases and Familial Tumor Syndromes

Name

EXGEFATU

Description

For the retrospective data analysis, patients with genetic diseases of any age and, if available, other family members, for whom genetic analyzes were carried out between 10/2016 and 12/2020, should be included. This equates to approximately 13,000 records, minus combined analyzes in the same patient, an estimated 12,000 individuals.

Trial arms

Trial start

2021-02-18

Estimated PCD

2024-02-01

Trial end

2025-02-01

Status

Recruiting

Treatment

Retrospective data analysis

The outlined evaluation contributes to the improvement of molecular genetic diagnostics in patient care - for example when which diagnostics can be sensibly recommended for patients with which indications or not. Diagnostic gaps can be systematically evaluated and specifically addressed in the future. This potentially affects every examination assignment for current and future patients. In addition, the evaluation of the PRSs for example, can contribute significantly to the timely introduction to routine diagnostics. For familial breast cancer, according to the guidelines, there may be very specific preventive measures. Estimates currently assume up to 5% of patients, which would mean up to 25 cases per year with a potentially adapted management for patients with the question of a tumor disease alone.

Arms:

Genetic diseases

Size

12000

Primary endpoint

Diagnosis

Day 1

Eligibility criteria

Inclusion Criteria: * Patient with genetic disease or * Family members * Genetic analysis between 10/2016 and 12/2020 at the Institute for Medical Genetics and Applied Genomics at the University Hospital Tübingen Exclusion Criteria: - None

Protocol

{'studyType': 'OBSERVATIONAL', 'patientRegistry': False, 'designInfo': {'observationalModel': 'COHORT', 'timePerspective': 'RETROSPECTIVE'}, 'enrollmentInfo': {'count': 12000, 'type': 'ESTIMATED'}}

Updated at

2023-11-29

1 organization

1 product

2 indications

Organization

University Hospital Tübingen

Product

Retrospective data analysis

Indication

Rare Diseases

Indication

Genetic Predisposition