Rare gene mutations under the microscope: new study seeks clues in families

NCT ID NCT07374913

First seen Jun 27, 2026 · Last updated Jun 27, 2026

Summary

This study looks at people with rare changes in the COL4A1 or COL4A2 genes, which can cause bleeding in the brain and problems in other organs. Researchers will collect health information and blood samples from 120 people, including family members with and without the gene change. The goal is to learn how these mutations affect the body and find early signs of disease, but no new treatment is being tested.

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Conditions

The condition(s) this trial relates to.

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Contacts and locations

Locations

  • Meyer Children's Hospital IRCSS

    RECRUITING

    Florence, FI, 50139, Italy

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