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

Recruiting now

Conditions studied: Rare Diseases, Genetic Predisposition

In brief

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.

Key facts

Study ID

NCT04731857

Run by

University Hospital Tuebingen

People needed

12000

Starts

2021-02-18

Expected to finish

2031-02-01

Last updated by the study team

2026-05-04

Who can join

Age: any. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• 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

You may not qualify if…

• None

Where it is running

• University Hospital Tübingen — Tübingen, Germany (enrolling)

Full record on ClinicalTrials.gov

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