[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"trial:NCT06552052":3,"trial-entities:NCT06552052":77,"trial-summary:NCT06552052":82},{"id":4,"nct_id":4,"org_study_id":5,"brief_title":6,"official_title":6,"overall_status":7,"completion_date":8,"status_verified_date":9,"last_update_date":10,"start_date":11,"sponsor_name":12,"lead_sponsor_class":13,"has_dmc":14,"brief_summary":15,"detailed_description":16,"conditions":17,"keywords":20,"study_type":21,"primary_purpose":16,"phases":22,"enrollment_info":23,"interventions":26,"primary_outcomes":27,"secondary_outcomes":38,"sex":39,"minimum_age":40,"maximum_age":16,"healthy_volunteers":14,"eligibility_criteria":41,"std_ages":50,"locations":54,"central_contacts":69,"overall_officials":74,"references":75,"see_also_links":76},"NCT06552052","2023P000821","A Retrospective and Prospective Natural History of Genetic Vasculopathies","RECRUITING","2028-07","2025-05","2025-05-08","2024-05-08","Massachusetts General Hospital","OTHER",false,"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.\n\nPatients 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.\n\nThis 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.",null,[18,19],"Multisystemic Smooth Muscle Dysfunction Syndrome","ACTA2",[],"OBSERVATIONAL",[],{"count":24,"type":25},50,"ESTIMATED",[],[28,32,35],{"measure":29,"description":30,"timeFrame":31},"Retrospectively define sequence and timing of vascular and non-vascular symptoms and disease progression","1.1 Develop patient surveys and identify retrospective\u002Fexisting 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).","3 Years",{"measure":33,"description":34,"timeFrame":31},"Prospectively assess the rate of change of vascular and non-vascular disease in MSMDS using quantitative measures, patient\u002Fcaregivers 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).",{"measure":36,"description":37,"timeFrame":31},"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.",[],"ALL","29 Days",{"inclusion":42,"exclusion":48,"raw_text":49},[43,44,45,46,47],"Confirmed ACTA2 pathogenic variant","Available medical records since birth that permit documentation of disease characteristics and developmental milestone","Have two parents and\u002For 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",[],"Inclusion Criteria:\n\n* Confirmed ACTA2 pathogenic variant\n* Available medical records since birth that permit documentation of disease characteristics and developmental milestone\n* Have two parents and\u002For legal guardians who are English speaking and are able to read, understand, and sign the informed consent\n* Able to tolerate travel to study site\n\nExclusion Criteria:\n\n* Patient does not meet the inclusion criteria\n* Patient is currently pregnant",[51,52,53],"CHILD","ADULT","OLDER_ADULT",[55],{"facility":12,"status":7,"city":56,"state":57,"zip":58,"country":59,"contacts":60,"geoPoint":66},"Boston","Massachusetts","02114","United States",[61],{"name":62,"role":63,"phone":64,"email":65},"Anna V Lynch, BA","CONTACT","617-949-6960","alynch22@mgh.harvard.edu",{"lat":67,"lon":68},42.35843,-71.05977,[70,71],{"name":62,"role":63,"phone":64,"email":65},{"name":72,"role":63,"email":73},"Diana Tambala, MD","dtambala@mgh.harvard.edu",[],[],[],{"nct_id":4,"conditions":78,"biomarkers":80},[79],"Multisystemic smooth muscle dysfunction syndrome",[81],"ACTA2 Gene",{"nct_id":4,"found":83,"summary":84,"prompt_version":94},true,{"design":85,"status":86,"heading":87,"summary":88,"follow_up":89,"word_count":90,"commitments":91,"compensation":92,"drugs_mentioned":93},"This is an observational study, meaning no interventions are given. It plans to enroll 100 participants across four cohorts.","completed","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.","Participants will be studied for at least 3 years, with the option to continue longer for assessment of disease progression.",96,"You would attend in-person clinic visits according to a schedule. Your medical records will be reviewed, and new clinical data will be collected.","Not stated in the trial record.",[],"v2"]