Marfan's 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 investigating whether the medication valsartan can help slow down the enlargement of the aorta in children and young adults with Marfan syndrome and related genetic conditions affecting the heart's main artery. The study is being conducted in Poland and is expected to run until May 31, 2027.

Inclusion criteria: The trial is open to patients between 1 and 39 years of age who have been diagnosed with a condition in the HTAD group, including Marfan syndrome, 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. Patients must have aortic root dilatation with a z-score of 2 or more, meaning the aorta is larger than normal for their age and size. Signed informed consent from the patient or their guardian is also required.

Exclusion criteria: Patients who have conditions other than Marfan syndrome or related diseases cannot participate. Those who fall outside the specified age range, do not have a diagnosis of heritable thoracic aortic diseases, or are unable to follow study procedures or take the medication as required are excluded. Additionally, patients with other medical conditions that might interfere with the study or pose a risk are not eligible.

Focus and goal: The main goal of this trial is to evaluate whether valsartan can effectively slow down the rate at which the aorta enlarges in young patients with these genetic conditions. Participants will be randomly assigned to receive either valsartan or a placebo. Throughout the study period of up to 36 months, the size of the aorta will be carefully monitored using transthoracic echocardiography, a type of ultrasound that creates images of the heart, and possibly angio-CT scans. The primary outcome being measured is the annual change in the diameter of the aortic root. This research aims to provide valuable information on whether valsartan can be an effective treatment option for managing aortic enlargement in these conditions.

Investigational drug: Valsartan is the medication being tested in this trial. It is commonly used to treat high blood pressure and heart failure, and works by blocking certain natural substances that tighten blood vessels, allowing blood to flow more smoothly and the heart to pump more efficiently. In this study, valsartan is being evaluated for its potential to slow down aortic enlargement in children and young adults. The medication is taken orally in tablet form, with dosages of either 40 mg or 80 mg, taken daily throughout the trial duration.