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COL4A1COL4A2: Study of Pathological Conditions Involving Multiple Organs Caused by Mutations in the COL4A1 and COL4A2 Genes

RecruitingNAAges any - anyAllMeyer Children's Hospital IRCCS
NCT07374913 on ClinicalTrials.gov ↗
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In plain words

What the trial is, and whether it could suit you

This observational and diagnostic study aims to better understand the clinical features and biological mechanisms associated with mutations in the COL4A1 and COL4A2 genes, which are known to cause a rare inherited small-vessel disease affecting the brain and other organs. These mutations can lead to a wide range of symptoms involving the brain, eyes, heart, blood vessels, kidneys, and muscles, and affected individuals within the same family may show very different clinical manifestations. The study will systematically collect clinical and diagnostic information from individuals with confirmed COL4A1/COL4A2 mutations and their first-degree family members, including both affected and unaffected relatives. Family members who carry, or may carry, the mutation will be offered non-invasive eye and heart examinations to detect early or previously unrecognized organ involvement. In addition, b

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📋 Eligibility rules (as published)
Inclusion Criteria: * Individuals (pediatric or adult) with a pathogenic or likely pathogenic mutation in the COL4A1 or COL4A2 genes and a clinical phenotype consistent with small vessel disease. * Adult first-degree family members (parents, siblings, or children) who are confirmed carriers or suspected carriers of the same COL4A1/COL4A2 mutation. * Adult first-degree family members who are non-carriers of the pathogenic mutation and who agree to provide a blood sample to be used as controls for laboratory analyses. * Ability to provide written informed consent; for minors, consent provided by a parent or legal guardian. Exclusion Criteria: * Refusal or inability to provide informed consent. * Individuals who do not meet the inclusion criteria above. * Any condition that, in the opinion of the investigators, would preclude participation in study procedures or reliable data collection.
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What it tests

  • Ophtalmological and cardiological screening
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Where

1 site
Meyer Children's Hospital IRCSS
Florence, Italy
🤝 Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible — always decide together with your own doctor.
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