A Retrospective and Prospective Natural History of Genetic Vasculopathies

Launched by MASSACHUSETTS GENERAL HOSPITAL · Aug 12, 2024

Keywords

ClinConnect Summary

This clinical trial, titled R-P NH of Genetic Vasculopathies, is studying a specific condition called Multisystemic Smooth Muscle Dysfunction Syndrome, which is linked to a genetic change in a gene known as ACTA2. The goal of the trial is to gather and review medical records from patients who have been diagnosed with this condition, and to collect new information about their health over time. A total of 100 patients will participate, with some coming in for regular visits to help researchers track how the disease affects them as they grow older.

To be eligible for the study, patients must have a confirmed change in the ACTA2 gene and have medical records available from birth that show their health history. Participants should be able to travel to the study site and have English-speaking parents or guardians who can understand and sign consent forms. The study is currently recruiting participants and will last at least three years, with the possibility of continuing longer if funding allows. This is a great opportunity for patients to contribute to important research that may help improve understanding and treatment of their condition.

Gender

ALL

Eligibility 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