RecruitingOBSERVATIONAL

Montalcino Aortic Consortium: Precision Medicine for Heritable Thoracic Aortic Disease

The Montalcino Aortic Consortium (MAC) is a research project looking into inherited thoracic aortic diseases (H-TADs), like aortic aneurysms and dissections, which are serious heart conditions. These conditions are often caused by changes in specific genes passed down through families. The study wants to bring together a lot of information from patients across the world who have these gene changes. By doing this, researchers hope to understand better what causes these diseases, how they develop, and what other factors, like our genes or environment, might make them better or worse. The goal is to improve how doctors manage these conditions and ultimately provide better care for people living with them.

At a glance

Status

Recruiting

Sponsor

The University of Texas Health Science Center, Houston

Enrolment target

5,000

Start

15 Jun 2016

Estimated completion

01 Jan 2037

Aortic Aneurysm Aortic Dissection Aortic Diseases

What is this study about?

This important research, called the Montalcino Aortic Consortium (MAC), focuses on understanding inherited conditions that affect the main artery coming from your heart, called the aorta. Sometimes, the aorta can weaken and bulge, which is known as an aneurysm, or tear, called a dissection. These are serious conditions, and for many people, they are linked to changes in certain genes that run in their families.

The project aims to create a large collection of information from many patients worldwide who have these genetic changes. By studying a big group of people, researchers can get a much clearer picture of how these gene changes cause the disease and what other things, like your lifestyle or genes, might affect how the condition develops. The more information they gather, the better they can understand why some people get these conditions and others don't.

Ultimately, the goal of this study is to improve how doctors look after patients with these inherited aortic conditions. By learning more about the specific genes involved and how they work, the researchers hope to find more precise ways to manage the disease, prevent serious complications, and give patients the best possible care.

Key takeaways

This study explores inherited conditions affecting the aorta, like aneurysms and dissections.
It aims to understand how specific gene changes lead to these serious conditions.
Researchers are gathering patient information globally to improve understanding and treatment.
Focus is on defining patient characteristics and environmental factors that influence the disease.
The ultimate goal is to provide more precise and better medical care for people with these conditions.

Who may be eligible?

You might be able to join this study if you and your family members have been found to have a specific change in one of a number of genes that are known to be linked to conditions affecting the aorta. Even if doctors aren't yet sure what the genetic change means, you could still be eligible.

This study welcomes people of all ages, genders, and backgrounds, as long as you or a legal guardian can understand and agree to take part. The main requirement is having that specific genetic change identified.

You would not be able to join the study if doctors haven't found a definite genetic change that is known to cause inherited aortic disease in your family.

Could this study suit you?

Answer these quick questions to see if you may be eligible. This is a guide only — the research team makes the final call.

I or a close family member have a confirmed genetic change in one of the specific genes linked to aortic disease (like TGFBR1, FBN1, etc.).
I understand that the study is looking at serious heart conditions that can run in families.
I am comfortable sharing my medical information for research purposes.
I am able to give informed consent or have a legal guardian who can.

Answer every question to see your result.

What does participation involve?

The details of your involvement in this study will depend on whether you are currently affected or are at risk. However, generally, taking part means that your medical information and possibly some tissue samples will be collected by the researchers. This information will be used to understand the condition better. You may be asked to attend clinic appointments for assessments and check-ups over time. There are no new medications involved in this study. The total duration of your participation could vary, as the study aims to follow patients over an extended period to understand how the disease progresses.

Potential risks and benefits

Taking part in this study could have potential benefits, such as contributing to a better understanding of inherited aortic diseases, which may lead to improved care for you and others in the future. There are generally very low risks as this is an observational study, meaning you won't be given any new treatments or medications. The main "risk" is the time and effort involved in providing your information and attending appointments. You are free to withdraw from the study at any time without explaining why, and this will not affect your medical care.

Locations (20)

Some site locations are approximate. We're improving this — please verify with the trial team before travelling.

HOAG memorial hospital presbyterian
Verified postcode
Newport Beach, United States· Recruiting
Hoag Memorial Hospital Presbyterian
Verified postcode
Newport Beach, United States· Recruiting
Sutter Health
Verified postcode
Sacramento, United States· Recruiting
University of Kentucky
Verified postcode
Lexington, United States· Recruiting
Massachusetts General Hospital
Verified postcode
Boston, United States· Recruiting
University of Michigan
Verified postcode
Ann Arbor, United States· Recruiting
Washington University in St. Louis
Verified postcode
St Louis, United States· Recruiting
University of Nebraska Medical Center
Verified postcode
Omaha, United States· Recruiting
St. Francis Hospital (Catholic Health)
Verified postcode
Roslyn, United States· Recruiting
Oregon Health & Science University
Verified postcode
Portland, United States· Recruiting
Baylor College of Medicine
Verified postcode
Houston, United States· Recruiting
Texas Children's Hospital
Verified postcode
Houston, United States· Recruiting

Common questions

What is an aortic aneurysm or dissection?

An aortic aneurysm is when the main artery from your heart, the aorta, bulges or expands. An aortic dissection is when the layers of the aorta tear apart. Both are serious medical conditions.

What does 'heritable' mean?

'Heritable' means something can be passed down from parents to their children through genes. In this case, certain changes in genes can increase the risk of these aortic conditions.

Will I receive new treatment through this study?

No, this study is about collecting information to understand the conditions better. You won't be given new medications or treatments as part of this research, but your current medical care will continue.

Is my personal information kept private?

Yes, researchers are committed to protecting your privacy. Your personal identity will be kept separate from your health information, and data will be handled securely and confidentially.

What happens with the information collected?

The information helps researchers understand how these conditions develop in people with specific gene changes. This knowledge aims to improve diagnosis, treatment, and long-term care for patients.

How to find out more

Dianna M Milewicz, MD, PhD

Dianna.M.Milewicz@uth.tmc.edu 713-500-6725 Official trial record

Always speak to your GP or specialist before deciding to take part in a study.