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

NCT ID NCT07374913

Recruiting now Knowledge-focused Sponsor: Meyer Children's Hospital IRCCS Source: ClinicalTrials.gov ↗

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.

Disclaimer Read more

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.

Get updates

Get notified about this study

Sign up to get updates when this study changes or when new studies for COL4A1-RELATED BRAIN SMALL VESSEL DISEASE WITH HAEMORRHAGE are added.

Our safety recommendation!

By submitting, you agree to our Terms of use

Conditions

The condition(s) this trial relates to.

brain small vessel disease 1 with or without ocular anomalies COL4A1/A2-related disorder

As listed by the trial registrant

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

Contacts and locations

Show contact details

Study contacts

Contact

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

Locations

Meyer Children's Hospital IRCSS
RECRUITING

Florence, FI, 50139, Italy

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