Ehlers-Danlos syndrome Trials in Disease

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

This trial is investigating whether valsartan, a medication commonly used to treat high blood pressure and heart failure, can help slow down the enlargement of the aorta in children and young adults with certain genetic conditions affecting connective tissue. The trial specifically includes patients with vascular type Ehlers-Danlos syndrome, along with Marfan syndrome, Loeys-Dietz syndrome, arterial tortuosity syndrome, Shprintzen-Goldberg syndrome, and other related conditions that can cause the aorta to become enlarged.

Main inclusion criteria:

• Patients must be between 1 and 39 years of age
• A confirmed diagnosis of a heritable thoracic aortic disease, including vascular type Ehlers-Danlos syndrome, Marfan syndrome, or related conditions
• Evidence of aortic root dilatation with a z-score of 2 or more, meaning the aorta is larger than normal for the person's age and size
• Signed informed consent from the patient or their guardian after understanding all study details

Main exclusion criteria:

• Patients with conditions other than the specified heritable thoracic aortic diseases
• Patients outside the defined age range
• Patients unable to follow study procedures or take the medication as required
• Patients with other medical conditions that might interfere with the study or pose additional health risks

Focus and goal: The primary goal of this study is to evaluate whether valsartan can effectively slow down the rate of aortic enlargement in patients with these genetic conditions. Throughout the trial, which is expected to last until May 2027, participants will be randomly assigned to receive either valsartan or a placebo. The size of the aorta will be carefully 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 there is a significant difference between those taking valsartan and those taking the placebo.

Investigational drug: Valsartan is the medication being tested in this trial. It belongs to a class of drugs known as angiotensin II receptor blockers 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 administered as an oral tablet in doses of either 40 mg or 80 mg, taken daily throughout the trial period. By potentially slowing down the process of aortic enlargement, valsartan may help reduce the risk of serious cardiovascular complications in the future for patients with vascular type Ehlers-Danlos syndrome and related conditions.