Who can participate?

The study is open to patients aged 1–40 years with a diagnosis of Marfan syndrome or another hereditary thoracic aortic disease (HTAD) who have enlargement of the aortic root corresponding to a z-score of at least +2.

The study is conducted at four centres across Poland: Gdańsk, Łódź, Warsaw and Kraków.

What is Marfan syndrome?

Marfan syndrome is a genetically determined connective tissue disorder that may lead to gradual enlargement of the aorta. If left untreated, aortic enlargement increases the risk of serious complications, including aortic dissection or rupture.

The disease may also affect the skeletal system, the eyes and the heart. Early diagnosis and regular monitoring of aortic diameter are essential for reducing the risk of complications.

Study objective

The objective of the project is to evaluate the efficacy of valsartan in children and young adults with genetically determined thoracic aortic diseases, including Marfan syndrome, in slowing aortic enlargement.

The planned study is randomised, placebo-controlled and double-blind. Valsartan will be added to the currently recommended beta-blocker treatment as add-on therapy.

What is valsartan?

Valsartan belongs to a group of medicines known as sartans. It is a selective angiotensin II type 1 receptor antagonist (AT1 receptor antagonist) with very high selectivity for this receptor.

The medicine is commonly used to treat arterial hypertension, heart failure and patients after myocardial infarction. In this study, its potential to slow aortic enlargement is being evaluated.

Why this project matters

Hereditary thoracic aortic diseases are associated with the risk of serious complications, including acute aortic syndromes. At present, the only intervention that can effectively reduce the frequency of life-threatening acute aortic syndromes is preventive cardiac surgery.

Expected project outcomes

The use of valsartan may slow enlargement of the ascending aorta and therefore:

• reduce the frequency of life-threatening conditions such as acute aortic syndrome, including aortic dissection and rupture, intramural haematoma and penetrating aortic ulcer;
• reduce the number of preventive cardiac surgeries involving the aorta;
• make it possible to postpone preventive cardiac surgery, which is particularly important for children, women planning pregnancy and young people at important stages of education and professional life.

The information above describes the assumptions of the project. Participation in the study does not guarantee a treatment effect.

Study population

Eligibility is always assessed individually on the basis of medical documentation and the study protocol criteria.

Collaboration

The project is carried out in collaboration between:

• Medical University of Gdańsk,
• Polish Mother’s Memorial Hospital Research Institute in Łódź,
• Marfan Polska Association.

Organisational information

The project is funded by the Polish state budget through the Medical Research Agency (MRA). It was selected for funding under the call for non-commercial clinical trials in rare diseases, call number ABM/2021/1.

Project duration: 01 December 2021 – 30 November 2027.