Actively Recruiting
Genetic Analysis of Uncommon Disease Presentations in Non-US Populations
Led by National Human Genome Research Institute (NHGRI) · Updated on 2026-05-14
400
Participants Needed
1
Research Sites
430 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
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
Official Title
Genetic Analysis of Uncommon Disease Presentations in Non-US Populations
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Willingness to comply with all study procedures and availability for the study duration
- Probands aged over 2 years or first-degree relatives aged over 2 years
- Suspicion of genetic cause due to strong family history, early onset, severity, or mildness of symptoms
- Inclusion based on medical record review of affected and unaffected family members
- Ability to understand and willingness to sign informed consent or assent
You will not qualify if you...
- Unwillingness to provide informed consent or assent
- Prior genetic testing with positive results for a genetic condition
- Symptoms caused by an undiagnosed condition unlikely to have a genetic cause
- Any condition that interferes with participation or completing study evaluations, as judged by the investigator
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
University of Mauritius
Moka, Mauritius
Actively Recruiting
Research Team
N
Neil A Hanchard, M.D.
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
2
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