Scientists investigate rare gene mutations to unlock early detection
NCT ID NCT07374913
First seen Jan 30, 2026 · Last updated May 12, 2026 · Updated 16 times
Summary
This study looks at people with rare changes in the COL4A1 or COL4A2 genes, which can cause bleeding in the brain and damage to other organs. Researchers will collect medical information and blood samples from 120 participants and their family members to find early signs of disease. The goal is to improve diagnosis and help develop future treatments.
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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: •••••@•••••
Locations
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Meyer Children's Hospital IRCSS
RECRUITINGFlorence, FI, 50139, Italy
Contact Phone: •••-•••-•••• Email: •••••@•••••
Conditions
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