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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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

Study contacts

  • Contact

    Phone: •••-•••-•••• Email: •••••@•••••

Locations

  • Meyer Children's Hospital IRCSS

    RECRUITING

    Florence, FI, 50139, Italy

    Contact Phone: •••-•••-•••• Email: •••••@•••••

Conditions

Explore the condition pages connected to this study.