Arterial tortuosity syndrome Trials in Disease

Study on Valsartan for Slowing Aortic Root Dilatation in Children and Young Adults with Marfan Syndrome and Related Conditions

This clinical trial is being conducted in Poland and focuses on children and young adults who have genetic conditions that affect the body's connective tissue and can lead to problems with the aorta, the main blood vessel carrying blood from the heart. These conditions include Marfan Syndrome and several related disorders such as Loeys-Dietz syndrome, the vascular type of Ehlers-Danlos syndrome, and Arterial Tortuosity Syndrome, among others.

Who can participate:

• Patients between 1 and 39 years of age
• Those diagnosed with Marfan Syndrome or related conditions including Loeys-Dietz syndrome, vascular type of Ehlers-Danlos syndrome, Arterial Tortuosity Syndrome, Shprintzen-Goldberg syndrome, neonatal form of Marfan syndrome, aneurysms-osteoarthritis syndrome, multi-system smooth muscle dysfunction syndrome, familial thoracic aortic aneurysms and aortic dissections, or bicuspid aortic valve syndrome
• Individuals who have aortic root enlargement with a z-score of 2 or more, meaning the aorta is larger than normal for their age and size
• Patients or their guardians who provide signed informed consent to participate

Who cannot participate:

• Patients with conditions unrelated to Marfan Syndrome or the related disorders listed above
• Those outside the specified age range of 1 to 39 years
• Patients who are unable to follow the study procedures or take the medication as required
• Individuals with other medical conditions that might interfere with the study or create health risks

Main focus of the trial:

The primary goal of this study is to evaluate whether valsartan can help slow down the enlargement of the aorta in patients with these genetic conditions. Participants will be randomly assigned to receive either valsartan or a placebo, which is an inactive substance with no medication. The trial will last up to 36 months, during which the size of the aorta will be regularly monitored using medical imaging techniques such as transthoracic echocardiography, a type of ultrasound that creates images of the heart and aorta. Researchers will measure the annual change in aortic root diameter to determine if valsartan is effective in managing aortic enlargement.

Investigational drug:

The medication being tested is valsartan, which is commonly used to treat high blood pressure and heart failure. Valsartan belongs to a class of medications called angiotensin II receptor blockers. It works by blocking certain natural substances that tighten blood vessels, allowing blood to flow more smoothly and reducing strain on the heart. In this trial, valsartan is being studied to see if it can slow the progression of aortic enlargement in children and young adults with connective tissue disorders. Participants will take valsartan orally in tablet form, with dosages of either 40 mg or 80 mg daily, depending on the specific treatment plan assigned to them.