New RNA test could solve medical mysteries for rare disease patients
NCT ID NCT05996731
First seen Mar 31, 2026 · Last updated May 27, 2026 · Updated 9 times
Summary
This study aims to improve diagnosis for people with rare genetic diseases whose standard genetic tests came back normal. Researchers will use a technique called RNA-Seq on skin cells to find hidden genetic changes. The study involves 105 participants, including healthy volunteers and patients with known or suspected rare diseases. The goal is to make RNA-Seq a reliable tool to help doctors give a clear 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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Contacts and locations
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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
Explore the condition pages connected to this study.