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.
This is an AI summary of the original study and may miss details. Read our disclaimer.
Study facts
What this study's own registry entry says, in plain language.
- Participants
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About 12,000 people
The number the study aims to enrol. It can still change while the study runs.
- Started
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Feb 2021
- Expected to finish
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Feb 2031
An estimate. End dates often move.
- Lead sponsor
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Other sponsor
The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.
Who can take part
This study's own entry requirements. Only the study team can say for certain whether you qualify.
Who is studied
Patients with genetic diseases of any age and, if present, other family members, for whom genetic analyzes were carried out between 10/2016 and 12/2020 at the Institute for Medical Genetics and Applied Genomics at the University Hospital Tübingen.
- Ages
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Children (under 18), adults (18 to 64) and older adults (65 and over)
- Sex
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Anyone
- Healthy volunteers
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Not accepted
This study is not open to healthy volunteers. The entry requirements below say who it is open to.
Show the full entry requirements Hide the full entry requirements
Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.
Inclusion Criteria: * 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 Exclusion Criteria: \- None
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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.
How to take part
Only the study team decides who joins. These are the ways to reach them.
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The places running it
1 site. The list below names each one and where it is.
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The official record
ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.
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A doctor treating you
A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.
Contacts and locations
Locations
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University Hospital Tübingen
RECRUITINGTübingen, 72076, Germany
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