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Observational Study of Advanced Data Analytics in Genetic Conditions

NCT05657405 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 1250

Last updated 2026-05-22

No results posted yet for this study

Summary

Background:

The genes a person is born with can sometimes cause serious diseases. Genetic diseases are rare, but they can have a big impact on the people they affect. Researchers have already made great strides in understanding how some genes cause disease. But they would like to have even better tools to analyze and understand genetic data. To create these new tools, they need to gather health and genetic data from a lot of people.

Objective:

This natural history study will gather medical information from people with genetic conditions.

Eligibility:

People of any age who (1) are known or suspected to have a genetic condition or (2) have a family member with a known or suspected genetic condition.

Design:

Participants will come to the clinic for up to 4 days. Tests to be performed will vary depending on the nature of each participant s health issue. The tests may include:

Blood and saliva. Blood may be drawn from a vein; cells and saliva may be collected by rubbing the inside of the cheek with a swab. These would be used for genetic testing.

Imaging scans. Participants may have X-rays or other scans of their bodies. They may lie still on a table while a machine records the images.

Heart tests. Participants may lie still while a technician places a probe on their chest. They may also have stickers attached to wires placed on their chest.

Photographs and recordings. Pictures may be taken of facial features, skin changes, or other effects of the genetic condition. Video and audio recordings may also be made.

Some people may be able to participate via telehealth.

Conditions

Sponsors & Collaborators

  • National Human Genome Research Institute (NHGRI)

    lead NIH

Principal Investigators

  • Benjamin D Solomon, M.D. · National Human Genome Research Institute (NHGRI)

Eligibility

Min Age
1 Day
Max Age
120 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2026-05-27
Primary Completion
2032-12-31
Completion
2032-12-31

Countries

  • United States

Study Locations

More Related Trials

Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT05657405 on ClinicalTrials.gov