Massachusetts General Hospital
Boston, Massachusetts, 02114, United States
Location status: Recruiting
Recruiting
NCT Number: NCT06552052
A Retrospective and Prospective Natural History of Genetic Vasculopathies
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.
Recruiting
Interested in participating?
Request InfoKey information
Age range
29 day and older
Sex eligibility
All sexes
Study type
Observational
Primary location
Who can participate
Healthy volunteers accepted: No
Only the study team can determine whether someone qualifies for participation.
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
Treatment and study plan
Primary outcomes
-
Retrospectively define sequence and timing of vascular and non-vascular symptoms and disease progression
Time frame: 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).
Time frame: 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
Time frame: 3 Years
Use the Actigraphy wearable technology system in conjunction with a video consult to remotely assess gait, limb movement and exercise performance.
Study contacts
Contact information is provided by the study sponsor or research team.
Sponsors and collaborators
Lead sponsor
Massachusetts General Hospital
Other
Registry information
Important dates
- Study start
- 2024
- Primary completion
- 2027
- Study completion
- 2028
- First posted
- Aug 13, 2024
- Registry last updated
- May 8, 2025
OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.
View the official ClinicalTrials.gov record (opens in a new tab)This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.
Related clinical trials
Published trials that share one or more normalized conditions with this study.
Not Yet Recruiting
A Single Patient Study of Sapropterin for Multisystem Smooth Muscle Dysfunction Syndrome
NCT07574034
Multisystemic Smooth Muscle Dysfunction Syndrome
Montreal, Quebec, Canada
View Trial Details