New RNA test could solve medical mysteries for rare disease patients
NCT ID NCT05996731
First seen Mar 31, 2026 · Last updated May 19, 2026 · Updated 8 times
Summary
This study is testing a new method called RNA-Seq to find genetic causes of rare diseases in people who have not been diagnosed with standard genetic tests. Researchers will take skin samples from about 105 participants, including healthy volunteers and patients with known or suspected genetic conditions. The goal is to improve diagnosis and understanding of rare diseases like atypical hemolytic uremic syndrome and polycystic kidney disease.
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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
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