Status:
RECRUITING
A Retrospective and Prospective Natural History of Genetic Vasculopathies
Lead Sponsor:
Massachusetts General Hospital
Conditions:
Multisystemic Smooth Muscle Dysfunction Syndrome
ACTA2
Eligibility:
All Genders
29+ years
Brief Summary
This study will combine retrospective review of medical records from patients with ACTA2 and ongoing collection of clinical data using standardized instruments and intervals on an observational basis ...
Eligibility Criteria
Inclusion
- 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
- Patient does not meet the inclusion criteria
- Patient is currently pregnant
Key Trial Info
Start Date :
May 8 2024
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
July 1 2028
Estimated Enrollment :
50 Patients enrolled
Trial Details
Trial ID
NCT06552052
Start Date
May 8 2024
End Date
July 1 2028
Last Update
May 8 2025
Active Locations (1)
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1
Massachusetts General Hospital
Boston, Massachusetts, United States, 02114