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Genetic Analysis of Uncommon Disease Presentations in Non-US Populations

NCT06595940 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 400

Last updated 2026-05-22

No results posted yet for this study

Summary

Background:

Genetics research over the past 20 years has helped researchers find the causes of many diseases. More powerful tools for genetic testing now exist. Researchers want to use these new tools to learn more about genetic diseases. They want to look for possible genetic causes of unusual diseases. They will focus on people who live outside of the United States and whose access to genetic testing has been limited.

Objective:

To look for potential genetic sources of diseases among children and their families.

Eligibility:

Children aged 2 to 18 years and their related family members who have or may have a genetic disease. They will reside primarily outside of the US.

Design:

Participants will be recruited at sites outside of the US. Participants will be screened. Their existing medical records will be reviewed. They will have a physical exam. They will answer questions about their family history and symptoms. Participants will provide samples for genetic testing. They may have blood drawn. They may spit saliva into a small container. They may have a cotton swab rubbed on the inside of the mouth. The samples will be shipped to the NIH for genetic testing. Participants will be notified if testing reveals a known disease. Participants may be asked to provide new samples to confirm the diagnosis. Local study teams will contact the participants about the results. Participants will also be notified if analysis yields gene variants that may cause disease.

Conditions

Sponsors & Collaborators

  • National Human Genome Research Institute (NHGRI)

    lead NIH

Principal Investigators

  • Neil A Hanchard, M.D. · National Human Genome Research Institute (NHGRI)

Eligibility

Min Age
2 Years
Max Age
100 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2026-05-27
Primary Completion
2034-08-21
Completion
2034-08-21

Countries

  • Mauritius

Study Locations

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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 NCT06595940 on ClinicalTrials.gov