Multisystemic Smooth Muscle Dysfunction SyndromeNCT06552052
A Retrospective and Prospective Natural History of Genetic Vasculopathies
An observational study of Multisystemic Smooth Muscle Dysfunction Syndrome and ACTA2, run by Massachusetts General Hospital at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 29 days and older
- Conditions the study is for
- Multisystemic Smooth Muscle Dysfunction Syndrome, ACTA2
- How many people
- 50 participants
- Where
- 1 siteUnited States
- Study dates
- 8 May 2024to Jul 2028
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 29 days and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Children who have been diagnosed with a genetic vasculopathy, ACTA2 R179 for example.
Who may be able to join
- 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
Who cannot join
- Patient does not meet the inclusion criteria
- Patient is currently pregnant
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Diana Tambala, MD contact
United States1 site, 1 recruiting
- Recruiting
Massachusetts General Hospital
Boston, Massachusetts, 02114
Anna V Lynch, BA, 617-949-6960, alynch22@mgh.harvard.edu
About this study
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.
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 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 | |
| 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 | |
| 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 | |
| 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 |
What is being measured
The primary outcome is the main question the study is designed to answer.
Retrospectively define sequence and timing of vascular and non-vascular symptoms and disease progression
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).
Measured: 3 Years
Prospectively assess the rate of change of vascular and non-vascular disease in MSMDS using quantitative measures, patient/caregivers reported outcomes (PROs).
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).
Measured: 3 Years
Determine whether remote assessments with wearable technology systems are comparable with quantitative performance measures obtained in Aim 2
Use the Actigraphy wearable technology system in conjunction with a video consult to remotely assess gait, limb movement and exercise performance.
Measured: 3 Years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted13 Aug 2024
- Study start8 May 2024
- Primary completionDec 2027 (estimated)
- Study completionJul 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Multisystemic Smooth Muscle Dysfunction SyndromeStudies of the same condition, open and under way.
- More trials run by Massachusetts General HospitalThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 50 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Massachusetts General Hospital
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Patricia Musolino, MD PhD, Massachusetts General Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06552052
- Sponsor's protocol ID
- 2023P000821
- Status last verified
- May 2025
- First submitted
- 4 Jan 2024
- Last updated
- 8 May 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 8 May 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Retrospective and Prospective Natural History of Genetic Vasculopathies
- ClinicalTrials.gov ID
- NCT06552052
- Acronym / sponsor ID
- 2023P000821
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 50 participants (estimated)
- Lead sponsor
- Massachusetts General HospitalUniversity, hospital or other
- Study start
- 8 May 2024 (actual)
- Primary completion
- Dec 2027 (estimated)
- Study completion
- Jul 2028 (estimated)
- First posted
- 13 Aug 2024 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 4
| Arm | Type | Receives |
|---|---|---|
| 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 |
| 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 |
| 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 |
| 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 |
Who may qualify
- Ages
- 29 days and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Children who have been diagnosed with a genetic vasculopathy, ACTA2 R179 for example.
Key inclusion criteria (4 listed)
- 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
Key exclusion criteria (2 listed)
- Patient does not meet the inclusion criteria
- Patient is currently pregnant
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 8 May 2025.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Diana Tambala, MD contact
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Multisystemic Smooth Muscle Dysfunction Syndrome and ACTA2, run by Massachusetts General Hospital at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 8 May 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Anna V Lynch, BA (617-949-6960, alynch22@mgh.harvard.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Retrospectively define sequence and timing of vascular and non-vascular symptoms and disease progression (time frame: 3 Years). The study lists 3 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 8 May 2025.