ACTA2, Multisystemic Smooth Muscle Dysfunction Syndrome
Conditions
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.
Interventions
None listed
Sponsors
Massachusetts General Hospital
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
29 Days to No maximum
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Retrospectively define sequence and timing of vascular and non-vascular symptoms and disease progression | 3 Years | 1.1 Develop patient surveys and identify retrospective/existing clinical data sources for aggregation, harmonization, and analyses of outcomes and biomarkers to be compared to existing published data. 1.2. Identify modifiers of symptom progression in patients with MSMDS. 1.3 Correlate the degree of disease progression by systems in 40 patients (cross-sectional study) and construct an MSMDS Rating Scale to evaluate disease severity and progression in children. 1.4 Create case report forms based on previously known and developed surveys in 1.1. to allow for standardized prospective data collection (Outcome 2). |
| Prospectively assess the rate of change of vascular and non-vascular disease in MSMDS using quantitative measures, patient/caregivers reported outcomes (PROs). | 3 Years | 2.1 Assess vascular and non-vascular disease progression over 3 years. 2.2 Compare the trajectory between clinical rating scales and patient-reported outcomes. 2.3 Correlate disease progression by individual and MSMDS-specific scale with other variables (age at diagnosis, sex, genetic variance, surgeries, etc). |
| Determine whether remote assessments with wearable technology systems are comparable with quantitative performance measures obtained in Aim 2 | 3 Years | Use the Actigraphy wearable technology system in conjunction with a video consult to remotely assess gait, limb movement and exercise performance. |
Countries
United States
Contacts
Primary ContactAnna V Lynch, BA
Backup ContactDiana Tambala, MD
Outcome results
None listed