Recruiting

Genetic Vasculopathies

Sponsor:

Massachusetts General Hospital

Code:

NCT06552052

Conditions

Multisystemic Smooth Muscle Dysfunction Syndrome

ACTA2

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Study Details

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 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

Study ID

NCT06552052

Start date

May 8, 2024

Status verified date

May, 2025

Completion date

Jul, 2028

Anticipated

Primary completion date

Dec, 2027

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

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

Study Design

Enrollment

50 participants

Anticipated

Interventions and Outcome Measures

Arms

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

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

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

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 ]
  • Prospectively assess the rate of change of vascular and non-vascular disease in MSMDS using quantitative measures, patient/caregivers reported outcomes (PROs). [ Time Frame: 3 Years ]
  • Determine whether remote assessments with wearable technology systems are comparable with quantitative performance measures obtained in Aim 2 [ Time Frame: 3 Years ]

Central Contacts and Locations

Central contacts

Anna V Lynch, BA

617-949-6960alynch22@mgh.harvard.edu

Diana Tambala, MD

dtambala@mgh.harvard.edu

Locations

Massachusetts General Hospital

Recruiting

Boston, Massachusetts, United States, 02114

Contacts

Anna V Lynch, BA

617-949-6960alynch22@mgh.harvard.edu

More Information

Sponsor

Massachusetts General Hospital

Last update posted

May 8, 2025

Last verified

May, 2025

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by Massachusetts General Hospital on 2025-05-08.