12,000-Person study aims to unlock genetic secrets of rare diseases
NCT ID NCT04731857
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.
Disclaimer
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This is a summary of
the original study
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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.
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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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
Contacts and locations
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Study contacts
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Contact
Phone: •••-•••-•••• Email: •••••@•••••
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Contact
Phone: •••-•••-•••• Email: •••••@•••••
Locations
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University Hospital Tübingen
RECRUITINGTübingen, 72076, Germany
Contact Phone: •••-•••-•••• Email: •••••@•••••
Contact Phone: •••-•••-•••• Email: •••••@•••••