A Retrospective and Prospective Natural History of Genetic Vasculopathies

Conditions

• ACTA2
• Multisystemic Smooth Muscle Dysfunction Syndrome

Eligibility Criteria

Sex

ALL

Age

29 Days - N/A

Healthy Volunteers

Not accepted

Study Details

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.

Key Dates

Start date

May 8, 2024

Status verified

May 2025

Primary completion

Dec 31, 2027

Completion

Jul 31, 2028

Study Design

Enrollment

50 participants (estimated)

Arms

• Arm: Cohort 1 (29 days - 6 years of age)
  1. Patient is between the ages of 29 days - 6 years old 2. Confirmed ACTA2 pathogenic variant 3. Available medical records since birth that permit documentation of disease characteristics and developmental milestone 4. Have two parents and/or legal guardians who are English speaking and are able to read, understand, and sign the informed consent 5. Able to tolerate travel to study site
• Arm: Cohort 2 (7 - 18 years of age)
  1. Patient is between the ages of 7 - 18 years old 2. Confirmed ACTA2 pathogenic variant 3. Available medical records since birth that permit documentation of disease characteristics and developmental milestone 4. Have two parents and/or legal guardians who are English speaking and are able to read, understand, and sign the informed consent 5. Able to tolerate travel to study site
• Arm: Cohort 3 (19 - 99 years of age)
  1. Patient is between the ages of 19 - 100 years old 2. Confirmed ACTA2 pathogenic variant 3. Available medical records since birth that permit documentation of disease characteristics and developmental milestone 4. Patient, parent and/or legal guardian is English speaking is able to read, understand, and sign the informed consent 5. Able to tolerate travel to study site
• Arm: Cohort 4 (Retrospective - All Ages)
  1. Patient of any age, alive or deceased 2. Confirmed ACTA2 pathogenic variant 3. Available medical records since birth that permit documentation of disease characteristics and developmental milestone 4. Patient, parent and/or legal guardian is English speaking and able to read, understand, and sign the informed consent

Primary Outcome Measure

Retrospectively define sequence and timing of vascular and non-vascular symptoms and disease progression [ Time Frame: 3 Years ]

Central Contacts

• Anna V Lynch, BA
  617-949-6960
  [email protected]
• Diana Tambala, MD
  [email protected]

Locations (1)

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