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Diagnostic Value of Exome/ Genome Sequencing, Conventional Methods in Rare Diseases and Familial Tumor Syndromes

NCT04731857 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 12000

Last updated 2026-05-04

No results posted yet for this study

Summary

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.

Conditions

Interventions

GENETIC

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.

Sponsors & Collaborators

  • University Hospital Tuebingen

    lead OTHER

Principal Investigators

  • Tobias Haack, Dr. · University Hospital Tübingen

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2021-02-18
Primary Completion
2030-02-28
Completion
2031-02-28

Countries

  • Germany

Study Locations

More Related Trials

Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT04731857 on ClinicalTrials.gov