Observing the natural history of genetic vasculopathies in patients with ACTA2 mutations
A Retrospective and Prospective Natural History of Genetic Vasculopathies
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 |
|---|---|
| Enrollment | 50 (estimated) |
| Ages | 29 Days and up |
| Sex | All |
| Sponsor | Massachusetts General Hospital Academic / other |
| Locations | 1 site (Boston, Massachusetts) |
| Trial ID | NCT06552052 on ClinicalTrials.gov |
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.
Who should consider this trial
Good fit: Ideal candidates for this study are individuals with a confirmed ACTA2 pathogenic variant and comprehensive medical records available since birth.
Not a fit: Patients who do not have an ACTA2 pathogenic variant or are currently pregnant may not benefit from this study.
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 performed: While there may be limited studies specifically on ACTA2, observational studies on genetic vasculopathies have shown promise in understanding disease progression and management.
Eligibility criteria
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 this trial is running
Boston, Massachusetts
- 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
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.