At a glance
- What the study gets you
- Health checks and monitoring — no treatment given
- Type of study
- Observational (no treatment given)
- Time in hospital
- In-person visits at study sites — visit count not specified by the sponsor
- Drug or intervention
- Not specified by the sponsor
- How long the study runs
- Study runs about 247 months (dates as stated)
- About the drug or intervention
- Not specified by the sponsor
- Patient visit burden
- Not specified by the sponsor
In plain English
This study, run by the Montalcino Aortic Consortium, looks at inherited conditions that affect the aorta, the large blood vessel carrying blood from the heart. It covers aortic aneurysms (a bulge in the aorta), aortic dissection (a tear in the aorta's wall), and other aortic diseases. The aim is precision medicine, which means tailoring care to a person's genes.
Who can take part
- Patients and their relatives with a confirmed gene change (variant) linked to heritable thoracic aortic disease in at least one of the listed genes, such as TGFBR1, TGFBR2, SMAD3, TGFB2, TGFB3, ACTA2, MYH11, MYLK, PRKG1, MAT2A, MFAP5, LOX, COL3A1, FOXE3, or FBN1. The gene change may be known to cause disease, likely to cause disease, or of unknown significance.
- Patients of any age, sex, or race, as long as informed consent (permission to take part) can be given.
Who may not be able to
- Patients without a confirmed gene change that causes heritable thoracic aortic disease.
What taking part involves
- • Not stated — ask the trial team
Time commitment: Not stated — ask the trial team
Plain-English summary (AI-generated) from registry data. Not eligibility advice — only the trial team can confirm whether you can take part. Use the eligibility checker to see how your health profile matches this trial.
- Type of study
- Observing health over time
- Ages
- Not specified
- Who
- All
- Number of participants
- 5,000
- Started
- 2016-06-15
- Last checked
- 2026-01
Plain English Summary
What is this study?
- • Testing a new treatment for aortic aneurysm
- • Clinical study - 5,000 participants
- • The Montalcino Aortic Consortium (MAC) will provide the infrastructure to assemble large cohorts of patients with mutations in known heritable thoracic aortic disease (H-TAD) genes, define the phenotype associated with these genes, and determine genetic and environmental modifiers of H-TAD
Who can take part?
- • Adults
- • Diagnosed with aortic aneurysm
Where?
- • London - Great Ormond Street Hospital
This is a simplified summary. Always discuss with your doctor before making any decisions.
About This Trial
The Montalcino Aortic Consortium (MAC) will provide the infrastructure to assemble large cohorts of patients with mutations in known heritable thoracic aortic disease (H-TAD) genes, define the phenotype associated with these genes, and determine genetic and environmental modifiers of H-TAD.
More detail
The MAC will provide the infrastructure to assemble large cohorts of patients with mutations in known H-TAD genes, define the phenotype associated with these genes, and determine genetic and environmental modifiers and other biomarkers of H-TAD. 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.
How this trial compares with your answers
Answer 2 more questions to improve match
What we know so far
Still need:
- • Tell us your age for better matching
- • Tell us your sex for better matching
Preliminary match based on your answers. Full eligibility requires on-site assessment including medical history, physical exam, and lab tests. This does not guarantee enrolment.
Eligibility at a Glance
Key info
- Age: Not specified
- Who can join: All genders
What the study is looking for
- ✓Patients of all ages, sex and race for which agreement to take part can be obtained.
Who cannot take part
- ✗Patients without a confirmed causative variant for H-TAD.
See the full criteria
Where Is This Study? (1 UK site)
Great Ormond Street Hospital
London WC1N 3JH, United Kingdom
How to Get in Touch
Dianna M Milewicz, MD, PhD
Sponsor contactCONTACT
Ernesto Calderon Martinez, MD
Sponsor contactCONTACT