RNA sleuths hunt for hidden genetic culprits in undiagnosed patients
NCT ID NCT07075107
First seen Nov 21, 2025 · Last updated Apr 25, 2026 · Updated 15 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 of 62 participants to spot harmful genetic changes. The goal is to end the long search for a diagnosis and compare which tissue type works best for this testing.
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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.
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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Study contacts
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Contact
Phone: •••-•••-•••• Email: •••••@•••••
Locations
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Assistance publique - hôpitaux de Marseille
Marseille, Provence-Alpes-Côt-d'Azue, 13354, France
Contact Phone: •••-•••-•••• Email: •••••@•••••
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