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