Health effects of COL4A1 and COL4A2 gene mutations across the brain, eyes, heart, kidneys, and muscles.
Official title: Study of the Familial Phenotype Associated With Mutations in the COL4A1 and COL4A2 Genes
Run by Meyer Children's Hospital IRCCS · NCT07374913 · Data updated 2026-11-12
This project will test whether systematic clinical exams and blood tests can reveal early or hidden organ problems in people with COL4A1/COL4A2 mutations and their first-degree relatives.
Quick facts
| Study type | Interventional |
|---|---|
| Sex | All |
| Enrollment | 120 (estimated) |
| Sponsor | Meyer Children's Hospital IRCCS Academic / other |
| Locations | 1 site (Florence, FI) |
| Status | Recruiting |
| Started | May 1, 2021 |
| Main results expected | November 2026 |
| Study ends | December 2026 |
| Registry record updated | January 30, 2026 |
| Trial ID | NCT07374913 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates are individuals of any age with a confirmed pathogenic or likely pathogenic COL4A1 or COL4A2 mutation and their adult first-degree relatives, whether carriers, suspected carriers, or non-carrier controls willing to provide blood samples.
✕Probably not a fit
People without COL4A1/COL4A2 mutations or those unable or unwilling to undergo the non-invasive exams or provide informed consent are unlikely to receive direct benefit from participation.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This prospective observational cohort enrolls individuals with pathogenic or likely pathogenic COL4A1 or COL4A2 variants and their first-degree family members to map the clinical spectrum across multiple organs. Participants complete a structured questionnaire and carrier or suspected-carrier adults are offered non-invasive ophthalmological and cardiological screening within routine clinical care. Adult non-carrier relatives serve as controls for selected laboratory analyses, and blood samples are collected for plasma biomarker studies including matrix metalloprotein activity. The combined clinical, imaging, and laboratory data aim to clarify variable expressivity and underlying biological mechanisms of COL4A1/COL4A2-related disease.
Why it matters
Potential benefit: If successful, the project could enable earlier detection of organ involvement and better guidance for monitoring and managing people with COL4A1/COL4A2 mutations.
How similar studies have gone: Previous case series and genetic reports have documented multi-organ features in COL4A1/COL4A2 carriers, but prospective family-based diagnostic screening combined with biomarker analysis is relatively limited and partly novel.
Who can join: the full rules
Show full inclusion / exclusion criteria
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.
Where it's running
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Meyer Children's Hospital IRCSS
Florence, Fi, Italy Recruiting
Study contacts
- Study coordinator: SIMONA Balestrini, Md, PhD
- Email: simona.balestrini@meyer.it
- Phone: +390555662719
Similar studies
Other studies for the same condition or treatment. Recruiting studies are listed first.
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Investigating genetic and non-genetic factors in small vessel disease
This study is trying to see how genetic and non-genetic factors affect people with small vessel disease in the brain by looking at their symptoms and MRI results over two years.
How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.