Scientists recruit 1,000 people to unlock secrets of surprise gene changes
NCT ID NCT03632239
First seen Jun 24, 2026 · Last updated Sep 11, 2026 · Updated 8 times
Summary
This study enrolls 1,000 people who already have genetic sequencing data and may have unexpected gene variants. Researchers will collect health information, family history, and samples to see how these variants affect traits and health. The goal is to build a resource for scientists to learn more about genetic diseases and possible treatments.
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 researchers better understand how certain genetic variants affect health, potentially pointing toward new treatments for genetic diseases.
- What could go wrong
- This is an observational study, not a treatment trial. It collects data but does not test any therapy, so direct benefits to participants are unlikely.
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 1,000 people
The number the study aims to enrol. It can still change while the study runs.
- Started
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Jan 2020
- Expected to finish
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Dec 2099
An estimate. End dates often move.
- Lead sponsor
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A government research agency
The lead sponsor is the US National Institutes of Health.
Who can take part
This study's own entry requirements. Only the study team can say for certain whether you qualify.
Who is studied
Individuals who have undergone genome sequencing under separate protocol
- Ages
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4 to 120 years
- 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: * Participants in the RPC Genomic Data Archive must have exome or genome sequencing available that collaborators have permission to share for inclusion in our resource. * Participants in the RPC Genomic Data Archive must be re-contactable by the primary study team (e.g., the collaborator who contributes their data must be able to contact the participants). * All participants must be \>= 4 years old. * Health Perceptions Survey Criterion: Only adult participants who are able to provide consent for themselves will be eligible for this portion of the study.
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Get notified about this study
Sign up to get updates when this study changes or when new studies for Harboring of unexpected genetic variant are added.
Genom att skicka in godkänner du våra Användarvillkor
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
The full official record for this study. This one lists no contact details, but it is the first place any would appear.
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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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National Institutes of Health Clinical Center
Bethesda, Maryland, 20892, United States