New RNA test could solve mysterious rare disease cases
NCT ID NCT05996731
First seen Mar 31, 2026 · Last updated May 13, 2026 · Updated 7 times
Summary
This study aims to improve diagnosis for people with rare genetic diseases that standard DNA tests cannot identify. Researchers will use RNA sequencing on skin cells from 105 participants, including healthy volunteers and patients with known or suspected genetic conditions. The goal is to find hidden genetic alterations and make RNA analysis a reliable diagnostic tool.
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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: •••••@•••••
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Contact
Phone: •••-•••-•••• Email: •••••@•••••
Locations
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Centro di Ricerche Cliniche per le Malattie Rare "Aldo e Cele Daccò"
RECRUITINGRanica, BG, 24020, Italy
Contact Phone: •••-•••-•••• Email: •••••@•••••
Conditions
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