12,000-Person study aims to unlock genetic secrets of rare diseases

NCT ID NCT04731857

Recruiting now Knowledge-focused Sponsor: University Hospital Tuebingen Source: ClinicalTrials.gov ↗

First seen Jun 25, 2026 · Last updated Jun 27, 2026 · Updated 1 time

Summary

This study looks back at genetic test results from about 12,000 people with rare diseases or family cancer syndromes. Researchers want to see how often exome or genome sequencing finds a diagnosis compared to older methods. The goal is to improve future testing and close diagnostic gaps.

What this could mean

Our plain-language read of the trial. This is informational only — not medical advice or a prediction.

What this could lead to: If successful, this could help doctors choose the right genetic tests for patients with rare diseases or family cancer syndromes.
What could go wrong: This is a retrospective data analysis, not a treatment trial. It won't directly help participants, and results may not apply to all patients.

This is an AI summary of the original study and may miss details. Read our disclaimer.

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Conditions

The condition(s) this trial relates to.

Genetic Risk Score hereditary disease inherited disease susceptibility Rare Diseases

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

GENETIC PREDISPOSITION RARE DISEASES

Contacts and locations

Locations

University Hospital Tübingen
RECRUITING

Tübingen, 72076, Germany

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