Study of COL4A1 and COL4A2 gene mutations
Part of Brain & nervous system, Genetic & congenital clinical trials.
This study looks at people with a mutation in the COL4A1 or COL4A2 genes, which can cause problems in small blood vessels throughout the body. It aims to learn more about the condition and may also include family members who carry the mutation or who can serve as healthy controls.
Summary written for real people, not researchers, by Clin2.
Who can take part
- You or your child must have a confirmed mutation in the COL4A1 or COL4A2 gene.
- The mutation must be known to cause symptoms related to small blood vessel disease (like stroke, migraine, or brain bleeding).
- Adult first-degree relatives (parents, siblings, or children) of a person with the mutation can join, even if they don't have symptoms.
- If you are an adult relative without the mutation, you can still participate as a control by giving a blood sample.
- You must be able to provide informed consent, or if you are a minor, a parent or guardian must consent.
Quick eligibility check
Answer a few plain-language questions, based on this study's own requirements, to get a preliminary sense of fit.
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