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
30 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
Researchers are studying patients with Multisystemic Smooth Muscle Dysfunction Syndrome (MSMDS) caused by ACTA2 genetic variants. This observational study combines a review of past medical records with ongoing collection of clinical data using standardized tools and scheduled visits. The goal is to better understand disease progression, symptoms, and related health changes over time. The study plans to enroll about 100 patients divided into different age groups or cohorts, including a retrospective cohort covering all ages. Participants are grouped into cohorts by age: infants to 6 years, children 7 to 18 years, adults 19 years and older, and a retrospective group of all ages. Patients in cohorts 1 to 3 will attend in-person clinic visits following a schedule of events. The retrospective cohort involves reviewing available medical records from birth to document disease features and developmental milestones. The study is planned for at least 3 years, with options for longer follow-up depending on funding and patient participation. During the study, data will be collected from medical records, clinical assessments, patient and caregiver reports, and wearable technology to monitor disease changes and progression. Researchers will evaluate both vascular and non-vascular symptoms and compare remote assessments with in-person performance measures. Participants may move between cohorts as they age. The study includes regular monitoring to track health status and outcomes over time, with a total participation duration of at least 3 years and possible extension.
CONDITIONS
Brief Title
A Retrospective and Prospective Natural History of Genetic Vasculopathies
Who Can Participate
Eligibility Criteria
You may qualify if you...
- 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
You will not qualify if you...
- Patient does not meet the inclusion criteria
- Patient is currently pregnant
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - Up to 3 years
Participants are observed to assess the progression of vascular and non-vascular symptoms and disease over time.
Periodic visits depending on cohort assignment and assessment schedule
Trial Site Locations
Total: 1 location
1
Massachusetts General Hospital
Boston, Massachusetts, United States, 02114
Actively Recruiting
Research Team
A
Anna V Lynch, BA
D
Diana Tambala, MD
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
Frequently Asked Questions
Have more questions? Get in touch with our team for quick support
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