RNA sleuths hunt for hidden genetic clues in rare diseases
NCT ID NCT07075107
First seen Nov 21, 2025 · Last updated Apr 28, 2026 · Updated 16 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 at birth. The goal is to find hidden genetic changes that explain their condition and compare which tissue works best for diagnosis.
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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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