New study uses genetic sequencing to solve mysterious childhood diseases

NCT ID NCT06595940

First seen Jun 24, 2026 · Last updated Jul 01, 2026 · Updated 4 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.

Disclaimer Read more

This is a summary of the original study . Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.

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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.

Contacts and locations

Study contacts

  • Contact

    Phone: •••-•••-•••• Email: •••••@•••••

Locations

  • University of Mauritius

    RECRUITING

    Moka, Mauritius

    Contact Phone: •••-•••-•••• Email: •••••@•••••