By InvitationNot Applicable

Reverse Phenotyping Core

United States1,000 participantsStarted 2020-01-23

Plain-language summary

Background: Genes tell a person's body how to grow and work. All people have variations in their genes. Some of these cause differences that show up in a person's traits or their health, others do not. Researchers want to gather more data on people based on their genes. They want to use this data to learn more about diseases and possible treatments. Objectives: To develop a cohort of participants who can be contacted again for phenotyping and collect their genetic data. To share those data with other researchers and make them searchable. Eligibility: People already enrolled in a wide variety of protocols. They will be of varying health status, age, and sex. They will have had or plan to have exome or genome sequencing under their protocol. They can be re-contacted by the research team for possible other studies. Design: Participants will give basic details like contact and demographic information. Participants may answer questions about their personal health history, their family medical history, or their thoughts or reactions to data. Participants may have basic health tests. Their height, weight, or blood pressure may be checked. Participants may have tests of heart function. They may have an ultrasound or other non-invasive test. Participants may provide blood, urine, or other samples. Participants may have scans or other tests. Participants will get the results of all clinical tests in a letter. If any tests are abnormal, someone from the study will call the participant to explain what the results mean and what to do about them. Participants will get genetic testing results only if researchers think they could affect the health of the participant or their relatives.

Who can participate

Age range

4 Years – 120 Years

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

* 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.

Questions worth asking your doctor

Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.

1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?

Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.

Questions for the trial coordinator

The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.

1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?

A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.

What they're measuring

Hypotheses from RPC to be tested

Timeframe: yearly

Trial details

NCT IDNCT03632239

SponsorNational Human Genome Research Institute (NHGRI)

Sponsor typeNIH

Study typeOBSERVATIONAL

Primary completion2028-06-01

View on ClinicalTrials.gov More Harboring of Unexpected Genetic Variant trials