Shprintzen-Goldberg 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 focused on children and young adults who have Shprintzen-Goldberg syndrome or related genetic conditions that can cause the aorta, the body's main artery, to become enlarged. The study aims to determine whether valsartan, a medication commonly used to treat high blood pressure, can help slow down this enlargement process.

Who can participate:

• Children and young adults between 1 and 39 years of age
• Those diagnosed with Shprintzen-Goldberg syndrome or related conditions including Marfan syndrome, Loeys-Dietz syndrome, vascular type of Ehlers-Danlos syndrome, Arterial Tortuosity syndrome, and several other related genetic disorders
• Patients who have 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
• Those who can provide signed informed consent (or have a guardian who can provide it on their behalf)

Who cannot participate:

• Patients with conditions not related to Marfan syndrome or related diseases
• Those who fall outside the specified age range
• Patients without a diagnosis of heritable thoracic aortic diseases related to Marfan syndrome
• Those unable to follow study procedures or take the medication as required
• Patients with other medical conditions that might interfere with the study or pose a risk

What the trial involves:

Participants will be randomly assigned to receive either valsartan or a placebo (an inactive substance with no medication). The medication comes in tablet form and is taken orally, with doses of either 40 mg or 80 mg depending on the specific product assigned. Treatment continues daily for the duration of the trial, which is expected to run until May 31, 2027, or up to 36 months for individual participants.

Throughout the study, regular monitoring will take place using medical imaging techniques such as transthoracic echocardiography, a type of ultrasound that creates images of the heart and aorta. Some participants may also undergo angio-CT scans, which provide detailed images of blood vessels. The primary goal is to measure how much the aortic root changes in size each year and to compare results between those taking valsartan and those taking the placebo.

The investigational drug:

Valsartan is a medication that belongs to a class of drugs known as angiotensin II receptor blockers. It 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 trial, researchers are testing whether valsartan can help manage the size of the aorta in people with genetic conditions that cause it to enlarge, potentially reducing the risk of serious heart problems in the future.