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New treatment option for COL4A1\2
Official title COL4A1COL4A2: Study of Pathological Conditions Involving Multiple Organs Caused by Mutations in the COL4A1 and COL4A2 Genes
ClinicalTrials.gov ID: NCT07374913
What this study is testing
- What it's testing
- 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.
A plain-language read of the study's public ClinicalTrials.gov listing. The study team confirms the details.
Who can take part
Adults
You may be able to join if
- Individuals (pediatric or adult) with a pathogenic or likely pathogenic mutation in the COL4A1 or COL4A2 genes and a clinical phenotype consistent...
- Adult first-degree family members (parents, siblings, or children) who are confirmed carriers or suspected carriers of the same COL4A1/COL4A2...
- 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...
- Ability to provide written informed consent; for minors, consent provided by a parent or legal guardian.
You likely can't join if
- 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.
The study team makes the final eligibility decision.
Where it's taking place
- Florence, FI, Italy
Questions & answers
Do participants get paid in this trial?
This listing doesn't specify compensation. Many trials still reimburse travel or offer a stipend, so it's worth asking the study team when you connect.
Is it free to join, and do I need insurance?
Searching and applying through BridgeMD is free. In clinical trials the study-related treatment and visits are generally provided at no cost to you. You usually don't need insurance to take part - confirm specifics with the study team.
How long does this study last?
The listing doesn't state an exact length. The study team walks you through the schedule and number of visits before you decide to enroll.
Who can join this trial?
This study is enrolling all sexes, not specified. The study team makes the final eligibility decision.
Where is this trial taking place?
Study sites include Florence, FI, Italy. Enter your location above to see the nearest site and check your eligibility.
Explore other conditions
BridgeMD is an information and trial-matching tool - not medical advice, and not the study sponsor. Details come from ClinicalTrials.gov; the study team decides eligibility.