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A Retrospective and Prospective Natural History of Genetic Vasculopathies

NCT06552052 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 50

Last updated 2025-05-08

No results posted yet for this study

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 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

  • Multisystemic Smooth Muscle Dysfunction Syndrome
  • ACTA2

Sponsors & Collaborators

  • Massachusetts General Hospital

    lead OTHER

Eligibility

Min Age
29 Days
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2024-05-08
Primary Completion
2027-12-31
Completion
2028-07-31

Countries

  • United States

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT06552052 on ClinicalTrials.gov