A Retrospective and Prospective Natural History of Genetic Vasculopathies

Mass General Brigham

Status: Enrolling

Conditions: Multisystemic Smooth Muscle Dysfunction Syndrome; ACTA2

Study type: Observational

Funder types: Other

Identifiers

NCT06552052

2023P000821

Details and patient eligibility

About

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.

Enrollment: 50 estimated patients

Sex: All

Ages: 29+ days old

Volunteers: No Healthy Volunteers

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

Trial design

50 participants in 4 patient groups

Cohort 1 (29 days - 6 years of age)

Description:

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

Cohort 2 (7 - 18 years of age)

Description:

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

Cohort 3 (19 - 99 years of age)

Description:

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

Cohort 4 (Retrospective - All Ages)

Description:

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