A Retrospective and Prospective Natural History of Genetic Vasculopathies
Recruiting
Observational Study
Multisystemic Smooth Muscle Dysfunction Syndrome
ACTA2
No Placebo Group
Every participant receives an active treatment — no one gets a placebo.
No Study Drug
Researchers observe your health over time — no experimental treatment is given.
At a Glance
- Age
- 29 Days and older
- Sex
- Any
- Study type
- Observational
- Participants needed
- 50 (estimated)
- Sponsor
- Massachusetts General Hospital · Other
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About This Trial
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 t…
Trial Locations
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Eligibility Criteria
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 informe…
Contacts