Scientists map family tree of rare disease to spot hidden signs
NCT ID NCT07374913
Summary
This study aims to better understand a rare, inherited condition caused by changes in the COL4A1 or COL4A2 genes. Researchers will observe and collect health information from families who carry these gene changes to learn how the disease affects different organs like the brain, eyes, and heart. The goal is to improve early detection and guide future research, but this study does not test any treatments.
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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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