RNA sleuths hunt for hidden genetic clues in rare diseases

NCT ID NCT07075107

First seen Nov 21, 2025 · Last updated Jun 11, 2026 · Updated 21 times

Summary

This study aims to help people with rare genetic diseases who have not received a clear diagnosis despite standard DNA testing. Researchers will analyze RNA from blood and skin samples of 62 patients with intellectual disability or weak muscle tone to find hidden genetic causes. The goal is to end the frustrating search for a diagnosis and compare which tissue type works best for this analysis.

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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

Explore the condition pages connected to this study.