Actively Recruiting
A Retrospective and Prospective Natural History of Genetic Vasculopathies
Led by Massachusetts General Hospital · Updated on 2025-05-08
50
Participants Needed
1
Research Sites
216 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
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 from patients with ACTA2. Patients in cohorts 1-3 will be asked to attend clinic visits in person per the schedule of events. At minimum, the medical records of patients with ACTA2 will be reviewed to record data on aspects of the disease, including disease characteristics and developmental milestones. The study is planned to enroll a total of 100 patients: 7 in cohort 1, 7 in cohort 2, and the remaining in cohorts 3 and 4. This study is planned to study patients for at least 3 years with the option to continue as long as possible for assessment of disease progression. During their continued study participation, as patients age, they may move into the next cohort. Beyond 3 years the duration of the study with be determined by availability of funding from sponsors.
CONDITIONS
Official Title
A Retrospective and Prospective Natural History of Genetic Vasculopathies
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Confirmed ACTA2 pathogenic variant
- Medical records available from birth documenting disease characteristics and developmental milestones
- Two parents and/or legal guardians who speak English and can read, understand, and sign informed consent
- Ability to tolerate travel to the study site
You will not qualify if you...
- Does not meet the inclusion criteria
- Currently pregnant
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
Massachusetts General Hospital
Boston, Massachusetts, United States, 02114
Actively Recruiting
Research Team
A
Anna V Lynch, BA
CONTACT
D
Diana Tambala, MD
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
4
Not the Right Trial for You?
Explore thousands of other clinical trials that might be a better match.
Sign up to get personalized trial recommendations delivered to your inbox.
Already have an account? Log in here