Natural History Study of Genetic Vasculopathies in Patients with ACTA2 Variant Across All Ages

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.

A Retrospective and Prospective Natural History of Genetic Vasculopathies