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出境医 / 临床实验 / Montalcino Aortic Consortium: Precision Medicine for Heritable Thoracic Aortic Disease (MAC:H-TAD)
Montalcino Aortic Consortium: Precision Medicine for Heritable Thoracic Aortic Disease (MAC:H-TAD)
Study Description
Brief Summary:
The Montalcino Aortic Consortium (MAC) will provide the infrastructure to assemble large cohorts of patients with Heritable Thoracic Aortic Disease (H-TAD) with and without mutations in known H-TAD genes, define the phenotype associated with these genes, determine genetic and environmental modifiers of H-TAD, as well as rapidly and efficiently identify novel genes.
| Condition or disease |
|---|
| Aortic Aneurysm Aortic Dissection Aortic Diseases |
Detailed Description:
The Montalcino Aortic Consortium (MAC) will provide the infrastructure to assemble large cohorts of patients with H-TAD with and without mutations in known H-TAD genes, define the phenotype associated with these genes, determine genetic and environmental modifiers and other biomarkers of H-TAD, as well as rapidly and efficiently identify novel genes. Recruitment of large numbers of patients world-wide will improve the precision of data used to predict disease risks. Retrospective and prospective study designs will be used to fully characterize the different stages of H-TAD (i.e. susceptibility, presymptomatic, and symptomatic) and other complications associated with the H-TAD genes, and examine clinical and environmental factors that define risk of aortic dissections. The data from MAC will provide the critical clinical information for precise management of thoracic aortic disease and other complications caused by mutations of these genes and improve the medical management and outcome of patients with genetically triggered, lethal vascular diseases.
Study Design
| Study Type : | Observational [Patient Registry] |
| Estimated Enrollment : | 5000 participants |
| Observational Model: | Cohort |
| Time Perspective: | Other |
| Target Follow-Up Duration: | 20 Years |
| Official Title: | Montalcino Aortic Consortium: Precision Medicine for Heritable Thoracic Aortic Disease |
| Actual Study Start Date : | April 29, 2016 |
| Estimated Primary Completion Date : | January 1, 2037 |
| Estimated Study Completion Date : | January 1, 2037 |
Arms and Interventions
| Group/Cohort |
|---|
|
Patients with heritable thoracic aortic disease (H-TAD)
Patients with heritable thoracic aortic disease (H-TAD) with causal mutations in the known H-TAD genes.
|
Outcome Measures
Primary Outcome Measures :
- Number of participants with aortic dissection [ Time Frame: 20 years ]
- Number of participants with aortic aneurysm requiring repair [ Time Frame: 20 years ]
- Number of participants who died due to an aortic dissection/rupture or postoperative complications [ Time Frame: 20 years ]
- Number of participants with aortic dilation [ Time Frame: 20 years ]
- Rate of aortic growth [ Time Frame: 20 years ]
Biospecimen Retention: Samples With DNA
DNA extracted from saliva or blood specimens
Eligibility Criteria
| Ages Eligible for Study: | Child, Adult, Older Adult |
| Sexes Eligible for Study: | All |
| Accepts Healthy Volunteers: | Yes |
| Sampling Method: | Non-Probability Sample |
Study Population
Individuals with H-TAD, with or without a known mutation, and their affected or unaffected relatives.
Criteria
Inclusion Criteria:
- Patients and their relatives with a confirmed pathogenic, likely pathogenic variant, or variant of unknown clinical significance in at least one of the H-TAD genes (i.e. TGFBR1, TGFBR2, SMAD3, TGFB2, TGFB3, ACTA2, MYH11, MYLK, PRKG1, MAT2A, MFAP5, LOX, COL3A1, FOXE3, and FBN1).
- Patients of all ages, sex and race for which informed consent can be obtained.
- Patients with H-TAD without a known mutation, i.e., individuals with thoracic aortic disease and similarly affected relatives or patients with the onset of disease before the age of 30 years.
- Affected and unaffected relatives of patients with H-TAD without a known mutation.
Exclusion Criteria:
- No evidence of H-TAD.
Contacts and Locations
Contacts
| Contact: Study Director | 713-500-6715 | ||
| Contact: Program Manager | 713-500-6715 |
Locations
| United States, Texas | |
| The University of Texas Health Science Center at Houston | Recruiting |
| Houston, Texas, United States, 77030 | |
| Contact: Program Manager 713-500-6715 | |
Sponsors and Collaborators
The University of Texas Health Science Center, Houston
| Tracking Information | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| First Submitted Date | July 1, 2019 | ||||||||
| First Posted Date | July 2, 2019 | ||||||||
| Last Update Posted Date | July 2, 2019 | ||||||||
| Actual Study Start Date | April 29, 2016 | ||||||||
| Estimated Primary Completion Date | January 1, 2037 (Final data collection date for primary outcome measure) | ||||||||
| Current Primary Outcome Measures |
|
||||||||
| Original Primary Outcome Measures | Same as current | ||||||||
| Change History | No Changes Posted | ||||||||
| Current Secondary Outcome Measures | Not Provided | ||||||||
| Original Secondary Outcome Measures | Not Provided | ||||||||
| Current Other Pre-specified Outcome Measures | Not Provided | ||||||||
| Original Other Pre-specified Outcome Measures | Not Provided | ||||||||
| Descriptive Information | |||||||||
| Brief Title | Montalcino Aortic Consortium: Precision Medicine for Heritable Thoracic Aortic Disease | ||||||||
| Official Title | Montalcino Aortic Consortium: Precision Medicine for Heritable Thoracic Aortic Disease | ||||||||
| Brief Summary | The Montalcino Aortic Consortium (MAC) will provide the infrastructure to assemble large cohorts of patients with Heritable Thoracic Aortic Disease (H-TAD) with and without mutations in known H-TAD genes, define the phenotype associated with these genes, determine genetic and environmental modifiers of H-TAD, as well as rapidly and efficiently identify novel genes. | ||||||||
| Detailed Description | The Montalcino Aortic Consortium (MAC) will provide the infrastructure to assemble large cohorts of patients with H-TAD with and without mutations in known H-TAD genes, define the phenotype associated with these genes, determine genetic and environmental modifiers and other biomarkers of H-TAD, as well as rapidly and efficiently identify novel genes. Recruitment of large numbers of patients world-wide will improve the precision of data used to predict disease risks. Retrospective and prospective study designs will be used to fully characterize the different stages of H-TAD (i.e. susceptibility, presymptomatic, and symptomatic) and other complications associated with the H-TAD genes, and examine clinical and environmental factors that define risk of aortic dissections. The data from MAC will provide the critical clinical information for precise management of thoracic aortic disease and other complications caused by mutations of these genes and improve the medical management and outcome of patients with genetically triggered, lethal vascular diseases. | ||||||||
| Study Type | Observational [Patient Registry] | ||||||||
| Study Design | Observational Model: Cohort Time Perspective: Other |
||||||||
| Target Follow-Up Duration | 20 Years | ||||||||
| Biospecimen | Retention: Samples With DNA Description:
DNA extracted from saliva or blood specimens
|
||||||||
| Sampling Method | Non-Probability Sample | ||||||||
| Study Population | Individuals with H-TAD, with or without a known mutation, and their affected or unaffected relatives. | ||||||||
| Condition |
|
||||||||
| Intervention | Not Provided | ||||||||
| Study Groups/Cohorts | Patients with heritable thoracic aortic disease (H-TAD)
Patients with heritable thoracic aortic disease (H-TAD) with causal mutations in the known H-TAD genes.
|
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| Publications * | Not Provided | ||||||||
|
* Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline. |
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| Recruitment Information | |||||||||
| Recruitment Status | Recruiting | ||||||||
| Estimated Enrollment |
5000 | ||||||||
| Original Estimated Enrollment | Same as current | ||||||||
| Estimated Study Completion Date | January 1, 2037 | ||||||||
| Estimated Primary Completion Date | January 1, 2037 (Final data collection date for primary outcome measure) | ||||||||
| Eligibility Criteria |
Inclusion Criteria:
Exclusion Criteria:
|
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| Sex/Gender |
|
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| Ages | Child, Adult, Older Adult | ||||||||
| Accepts Healthy Volunteers | Yes | ||||||||
| Contacts |
|
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| Listed Location Countries | United States | ||||||||
| Removed Location Countries | |||||||||
| Administrative Information | |||||||||
| NCT Number | NCT04005976 | ||||||||
| Other Study ID Numbers | HSC-MS-16-0191 | ||||||||
| Has Data Monitoring Committee | Not Provided | ||||||||
| U.S. FDA-regulated Product |
|
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| IPD Sharing Statement |
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| Responsible Party | Dianna M Milewicz, The University of Texas Health Science Center, Houston | ||||||||
| Study Sponsor | The University of Texas Health Science Center, Houston | ||||||||
| Collaborators | Not Provided | ||||||||
| Investigators | Not Provided | ||||||||
| PRS Account | The University of Texas Health Science Center, Houston | ||||||||
| Verification Date | July 2019 | ||||||||
