Ignite Creation Date:
2026-03-26 @ 3:18 PM
Ignite Modification Date:
2026-03-31 @ 3:55 AM
Study NCT ID:
NCT07391293
Status:
RECRUITING
Last Update Posted:
2026-02-05
First Post:
2026-01-20
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Genetic Aortic Diseases and Cardiovascular Complications. An Observational Survey of Risk Factors.
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2026-03-25'}, 'conditionBrowseModule': {'meshes': [{'id': 'D017545', 'term': 'Aortic Aneurysm, Thoracic'}, {'id': 'D035583', 'term': 'Rare Diseases'}], 'ancestors': [{'id': 'D001014', 'term': 'Aortic Aneurysm'}, {'id': 'D000783', 'term': 'Aneurysm'}, {'id': 'D014652', 'term': 'Vascular Diseases'}, {'id': 'D002318', 'term': 'Cardiovascular Diseases'}, {'id': 'D001018', 'term': 'Aortic Diseases'}, {'id': 'D020969', 'term': 'Disease Attributes'}, {'id': 'D010335', 'term': 'Pathologic Processes'}, {'id': 'D013568', 'term': 'Pathological Conditions, Signs and Symptoms'}]}, 'interventionBrowseModule': {'meshes': [{'id': 'D011788', 'term': 'Quality of Life'}, {'id': 'D006262', 'term': 'Health'}], 'ancestors': [{'id': 'D006304', 'term': 'Health Status'}, {'id': 'D003710', 'term': 'Demography'}, {'id': 'D015991', 'term': 'Epidemiologic Measurements'}, {'id': 'D011634', 'term': 'Public Health'}, {'id': 'D004778', 'term': 'Environment and Public Health'}, {'id': 'D011154', 'term': 'Population Characteristics'}]}}, 'protocolSection': {'designModule': {'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'PROSPECTIVE', 'observationalModel': 'COHORT'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 208}, 'targetDuration': '15 Months', 'patientRegistry': True}, 'statusModule': {'overallStatus': 'RECRUITING', 'startDateStruct': {'date': '2025-05-06', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2025-12', 'completionDateStruct': {'date': '2027-05', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2026-01-29', 'studyFirstSubmitDate': '2026-01-20', 'studyFirstSubmitQcDate': '2026-01-29', 'lastUpdatePostDateStruct': {'date': '2026-02-05', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2026-02-05', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2026-12', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Journey to diagnosis', 'timeFrame': '15 months', 'description': 'The mean, median, standard deviation and interquartile range will be used for continuous variables, whereas frequency and percentage will be applied for nominal and categorical variables. The Shapiro-Wilks test will be used to assess the Gaussian distributions.'}, {'measure': 'Quality of life, functional health and well-being', 'timeFrame': '15 months', 'description': 'The mean, median, standard deviation and interquartile range will be used for continuous variables, whereas frequency and percentage will be applied for nominal and categorical variables. The Shapiro-Wilks test will be used to assess the Gaussian distributions.'}, {'measure': 'Awareness and self-esteem, acceptance of the condition', 'timeFrame': '15 months', 'description': 'The mean, median, standard deviation and interquartile range will be used for continuous variables, whereas frequency and percentage will be applied for nominal and categorical variables. The Shapiro-Wilks test will be used to assess the Gaussian distributions.'}, {'measure': 'psychological and physical well-being', 'timeFrame': '15 months', 'description': 'The mean, median, standard deviation and interquartile range will be used for continuous variables, whereas frequency and percentage will be applied for nominal and categorical variables. The Shapiro-Wilks test will be used to assess the Gaussian distributions.'}]}, 'oversightModule': {'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['risk stratification', 'quality of life', 'rare disease', 'survey'], 'conditions': ['Thoracic Aortic Aneurysm (TAA)']}, 'referencesModule': {'references': [{'type': 'BACKGROUND', 'citation': 'Saeyeldin, Ayman A., Camilo A. Velasquez, Syed Usman B. Mahmood, Adam J. Brownstein, Mohammad A. Zafar, Bulat A. Ziganshin, e John A. Elefteriades. 2019. "Thoracic aortic aneurysm: unlocking the "silent killer" secrets". General Thoracic and Cardiovascular Surgery 67(1):1-11.'}, {'type': 'BACKGROUND', 'citation': 'Udugampolage, Nathasha, Rosario Caruso, Mariangela Panetta, Edward Callus, Federica Dellafiore, Arianna Magon, Susan Marelli, e Alessandro Pini. 2021. "Is SF-12 a valid and reliable measurement of health-related quality of life among adults with Marfan syndrome? A confirmatory study". PLoS ONE 16(6 June):e0252864. doi: 10.1371/journal.pone.0252864.'}]}, 'descriptionModule': {'briefSummary': 'The aim of this observational study is to define the behavioural and cardiovascular risk factor profiles of patients with genetic aortopathies. The main questions it aims to answer are:\n\n* How do the interconnections between lifestyle, stress, psychological condition, perception of illness, and state of health influence each other in this population?\n* Beyond traditional risk factors, additional emerging factors should be considered, including pregnancy-related complications, sedentary lifestyle, early menopause and depression. The interplay between eating disorders, lifestyle factors and autoimmune or inflammatory bowel diseases remains poorly understood.', 'detailedDescription': 'Thoracic aortic aneurysms (TAA) present peculiar symptoms as well as high mortality due to complications related to dilatation and dissection of the ascending aorta and great arteries. The presence or absence of extra-aortic features determines whether TAADs are syndromic, associated with diseases affecting other systems and organs, or non-syndromic, with manifestations limited to the aorta. Life expectancy of patients withTAA has improved markedly in the last decades, but still remains lower than that of the general population.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT'], 'maximumAge': '60 Years', 'minimumAge': '14 Years', 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'Patients with TAA either syndromic or non-syndromic followed at the Cardiovascular Genetic Centre, IRCCS Policlinico San Donato', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* signed onformed consent\n* Ability to speak, read and write in Italian\n\nExclusion Criteria:\n\n\\-'}, 'identificationModule': {'nctId': 'NCT07391293', 'acronym': 'PROM-1', 'briefTitle': 'Genetic Aortic Diseases and Cardiovascular Complications. An Observational Survey of Risk Factors.', 'organization': {'class': 'OTHER', 'fullName': 'IRCCS Policlinico S. Donato'}, 'officialTitle': 'Genetic Aortic Diseases and Cardiovascular Complications. An Observational Survey of Risk Factors.', 'orgStudyIdInfo': {'id': 'PROM-1'}}, 'armsInterventionsModule': {'armGroups': [{'label': 'TAA', 'description': 'subjects with TAA aged between 14 and 60 years', 'interventionNames': ['Other: Journey to diagnosis', 'Other: Quality of life, functional health and well-being', 'Other: Awareness and self-esteem, acceptance of the condition', 'Other: psychological and physical well-being']}], 'interventions': [{'name': 'Journey to diagnosis', 'type': 'OTHER', 'description': 'Questions relating to the course and experience/history of the disease from the onset of symptoms to confirmation of diagnosis; accessibility to referral facilities for treatment and follow-up.', 'armGroupLabels': ['TAA']}, {'name': 'Quality of life, functional health and well-being', 'type': 'OTHER', 'description': 'Qestionnaires', 'armGroupLabels': ['TAA']}, {'name': 'Awareness and self-esteem, acceptance of the condition', 'type': 'OTHER', 'description': 'questionnaire related to the quality of life and self-care', 'armGroupLabels': ['TAA']}, {'name': 'psychological and physical well-being', 'type': 'OTHER', 'description': 'questionnaire to describe psychological and physical well-being.', 'armGroupLabels': ['TAA']}]}, 'contactsLocationsModule': {'locations': [{'zip': '20097', 'city': 'Milan', 'status': 'RECRUITING', 'country': 'Italy', 'contacts': [{'name': 'Alessandro Pini, MD', 'role': 'CONTACT', 'email': 'alessandro.pini@grupposandonato.it', 'phone': '+390252774705'}], 'facility': 'Irccs Policlinico San Donato', 'geoPoint': {'lat': 42.78235, 'lon': 12.59836}}], 'centralContacts': [{'name': 'Alessandro Pini, MD', 'role': 'CONTACT', 'email': 'alessandro.pini@grupposandonato.it', 'phone': '+390252774705'}]}, 'ipdSharingStatementModule': {'ipdSharing': 'UNDECIDED', 'description': 'PD will not or might not be shared according to the preliminary results'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'IRCCS Policlinico S. Donato', 'class': 'OTHER'}, 'responsibleParty': {'type': 'PRINCIPAL_INVESTIGATOR', 'investigatorTitle': 'MD', 'investigatorFullName': 'Alessandro Pini', 'investigatorAffiliation': 'IRCCS Policlinico S. Donato'}}}}