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RNA sleuths hunt down hidden causes of rare diseases

NCT ID NCT07075107

First seen Nov 21, 2025 · Last updated Jun 17, 2026 · Updated 22 times

Summary

This study aims to find hidden genetic causes in people with rare diseases like intellectual disability or weak muscle tone who have not been diagnosed by standard DNA tests. Researchers will analyze RNA from blood and skin samples to spot harmful variants. The goal is to end the long, frustrating search for a diagnosis and improve future testing methods.

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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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Contacts and locations

Study contacts

  • Contact

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

Locations

  • Assistance publique - hôpitaux de Marseille

    RECRUITING

    Marseille, Provence-Alpes-Côt-d'Azue, 13354, France

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

    Contact

Conditions

The condition(s) this trial relates to.

hereditary disease intellectual disability Rare Diseases

As listed by the trial registrant

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