New study uses genetic sequencing to solve mysterious childhood diseases

NCT ID NCT06595940

Recruiting now Knowledge-focused Sponsor: National Human Genome Research Institute (NHGRI) Source: ClinicalTrials.gov ↗

First seen Jun 24, 2026 · Last updated Aug 14, 2026 · Updated 35 times

Summary

This study aims to find genetic causes of rare diseases in children aged 2 to 18 who live outside the United States and have limited access to genetic testing. Researchers will collect blood, saliva, or cheek swab samples from affected children and their family members. The goal is to use advanced genomic techniques to identify disease-causing gene variants and improve understanding of these conditions.

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 identify genetic causes of rare diseases in underserved populations, leading to better diagnosis and potential future treatments.
What could go wrong: This is an observational study, not a treatment trial. It may not find genetic causes for all participants, and results may not lead to immediate therapies.

This is an AI summary of the original study and may miss details. Read our disclaimer.

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Conditions

The condition(s) this trial relates to.

hereditary disease Rare Diseases Undiagnosed Diseases

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

RARE DISEASES UNDIAGNOSED DISEASES

Contacts and locations

Locations

University of Mauritius
RECRUITING

Moka, Mauritius

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