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12,000 Patients' DNA scrutinized to unlock rare disease mysteries

NCT ID NCT04731857

First seen May 24, 2026 · Last updated Jun 09, 2026 · Updated 3 times

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 newer DNA sequencing methods find a diagnosis compared to older tests. No new treatments are given; the goal is to learn which testing approach works best.

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This is a summary of the original study . Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.

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Contacts and locations

Study contacts

  • Contact

    Phone: •••-•••-•••• Email: •••••@•••••

  • Contact

    Phone: •••-•••-•••• Email: •••••@•••••

Locations

  • University Hospital Tübingen

    RECRUITING

    Tübingen, 72076, Germany

    Contact Phone: •••-•••-•••• Email: •••••@•••••

    Contact Phone: •••-•••-•••• Email: •••••@•••••

Conditions

The condition(s) this trial relates to.

Genetic Risk Score inherited disease susceptibility Rare Diseases

As listed by the trial registrant

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