Observing the natural history of genetic vasculopathies in patients with ACTA2 mutations
Official title: A Retrospective and Prospective Natural History of Genetic Vasculopathies
Run by Massachusetts General Hospital · NCT06552052 · Data updated 2026-11-12
This study looks at how ACTA2 gene mutations affect people over time to better understand the condition and its progression.
Quick facts
| Study type | Observational |
|---|---|
| Ages | 29 Days and up |
| Sex | All |
| Enrollment | 50 (estimated) |
| Sponsor | Massachusetts General Hospital Academic / other |
| Locations | 1 site (Boston, Massachusetts) |
| Status | Recruiting |
| Started | May 8, 2024 |
| Main results expected | December 2027 |
| Study ends | July 2028 |
| Registry record updated | May 8, 2025 |
| Trial ID | NCT06552052 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates for this study are individuals with a confirmed ACTA2 pathogenic variant and comprehensive medical records available since birth.
✕Probably not a fit
Patients who do not have an ACTA2 pathogenic variant or are currently pregnant may not benefit from this study.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This study combines a retrospective review of medical records and ongoing clinical data collection from patients diagnosed with ACTA2 pathogenic variants. It aims to document disease characteristics and developmental milestones over a minimum of three years, with the possibility of extending the study duration based on funding. Patients will be grouped into cohorts and will attend clinic visits as per a scheduled plan to facilitate comprehensive data gathering. The study intends to enroll around 100 patients to better understand the progression of this genetic condition.
Why it matters
Potential benefit: If successful, this study could provide valuable insights into the progression and management of ACTA2-related vasculopathies, potentially leading to improved patient care.
How similar studies have gone: While there may be limited studies specifically on ACTA2, observational studies on genetic vasculopathies have shown promise in understanding disease progression and management.
Who can join: the full rules
Show full inclusion / exclusion criteria
Inclusion Criteria: * Confirmed ACTA2 pathogenic variant * Available medical records since birth that permit documentation of disease characteristics and developmental milestone * Have two parents and/or legal guardians who are English speaking and are able to read, understand, and sign the informed consent * Able to tolerate travel to study site Exclusion Criteria: * Patient does not meet the inclusion criteria * Patient is currently pregnant
Where it's running
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Massachusetts General Hospital
Boston, Massachusetts, United States Recruiting
Study contacts
- Study coordinator: Anna V Lynch, BA
- Email: alynch22@mgh.harvard.edu
- Phone: 617-949-6960
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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.