Massive genetic data hunt aims to crack rare disease mysteries
NCT ID NCT05657405
First seen Jun 27, 2026 · Last updated Jul 01, 2026 · Updated 3 times
Summary
This observational study is gathering medical and genetic information from up to 1,250 people with known or suspected genetic conditions, as well as their relatives. Researchers will use advanced data analysis to find new insights into how genes cause disease. Participants may provide blood, saliva, imaging scans, heart tests, and photos. The goal is to develop better tools for analyzing complex genetic data, not to test a treatment.
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 study could lead to better tools for analyzing genetic data, helping doctors understand and diagnose genetic conditions more accurately.
What could go wrong
This is an observational study, not a treatment trial. It may not directly benefit participants, and the tools developed may take years to become available in clinics.
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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National Institutes of Health Clinical Center
RECRUITINGBethesda, Maryland, 20892, United States
Contact Phone: •••-•••-•••• Email: •••••@•••••