Observational Study for Genetic Vasculopathies (ACTA2)
This observational study aims to understand how Multisystemic Smooth Muscle Dysfunction Syndrome (MSMDS), caused by a change in the ACTA2 gene, progresses over time. Researchers will look at past medical records and collect new information from patients to track symptoms and how the disease changes. They will also explore if wearable technology can accurately measure disease changes. To join, you must have a confirmed ACTA2 gene change, medical records from birth, and English-speaking parents or guardians who can sign consent. The study plans to enroll 100 participants and will follow them for at least 3 years.
- Study design
- This is an observational study, meaning no interventions are given. It plans to enroll 100 participants across four cohorts.
- What's involved
- You would attend in-person clinic visits according to a schedule. Your medical records will be reviewed, and new clinical data will be collected.
- Compensation
- Not stated in the trial record.
- Follow-up
- Participants will be studied for at least 3 years, with the option to continue longer for assessment of disease progression.
AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.
A Retrospective and Prospective Natural History of Genetic Vasculopathies
At a glance
Conditions
Where it's being run
1 sites across 1 statesWho to contact
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Do you actually qualify for this trial?
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Inclusion
What this trial measures
- Retrospectively define sequence and timing of vascular and non-vascular symptoms and disease progression3 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 23 Years
Use the Actigraphy wearable technology system in conjunction with a video consult to remotely assess gait, limb movement and exercise performance.