A Retrospective and Prospective Natural History of Genetic Vasculopathies
NCT ID: NCT06552052
Last Updated: 2025-05-08
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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RECRUITING
50 participants
OBSERVATIONAL
2024-05-08
2028-07-31
Brief Summary
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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.
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Detailed Description
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Conditions
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Study Design
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COHORT
PROSPECTIVE
Study Groups
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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
No interventions assigned to this group
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
No interventions assigned to this group
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
No interventions assigned to this group
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
No interventions assigned to this group
Eligibility Criteria
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Inclusion Criteria
* 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
* Patient is currently pregnant
29 Days
ALL
No
Sponsors
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Massachusetts General Hospital
OTHER
Responsible Party
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Patricia Musolino, MD PhD
Dr. Patricia L. Musolino, MD PhD, Principle Investigator
Locations
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Massachusetts General Hospital
Boston, Massachusetts, United States
Countries
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Central Contacts
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Facility Contacts
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Other Identifiers
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2023P000821
Identifier Type: -
Identifier Source: org_study_id
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