Marfan Syndrome Clinical Trials 2023

What Are Marfan Syndrome Clinical Trials?

Marfan Syndrome is a multi-systemic genetic condition that affects the body’s connective tissues, resulting in tall and slender builds, disproportionately long legs, arms, toes, and fingers, abnormally curved spine, and/or exceptionally flexible joints. The nature and severity of the symptoms can vary depending on what parts of the body are affected. The condition commonly affects the skeleton, heart, blood vessels, eyes, and lungs.

Marfan Syndrome clinical trials are scientific attempts to improve the understanding of this complex disease for the provision of better care and treatment to the affected individuals.

Why Is Marfan Syndrome Being Studied Through Clinical Trials?

Marfan Syndrome is a rare genetic disorder caused by a mutation in the gene that tells the body how to manufacture and use the Fibrillin-1 protein that makes connective tissues’ elastic fibers and also has an impact on the TGF-beta protein that plays a vital role in the body’s growth and development. The gene mutation that causes the disorder is often spontaneous, making it difficult for researchers to truly understand its underlying causes and help prevent it. The condition is being studied through clinical trials to overcome these obstacles to improve our knowledge of the disease and make way for better diagnostic and treatment procedures.

What Are The Types of Treatments Available For Marfan Syndrome?

There is no cure for Marfan Syndrome. Therefore, the treatment focuses on avoiding the various health complications it can lead to, which requires regular monitoring by a healthcare professional and the use of one or more of the following:

• Medications
• Surgeries
• Therapies
• Lifestyle changes
• Counseling
• Support groups
• Preventive screenings, such as echocardiograms and eye exams.

What Are Some Recent Breakthrough Clinical Trials For Marfan Syndrome?

2020: A research study conducted at Washington University in St. Louis explored the fibrillin-1 present in the Zonule of Zinn, the fiber bands that hold the lenses of the eyes, to gain an in-depth insight into the eye conditions that Marfan syndrome may lead to due to the weakening of these zonule fibers. The study funded by the National Eye Institute is the first to identify the location of fibrillin-1 synthesis in the eye, opening a new door to treating Marfan-lead eye diseases with zonule fibers repair or regeneration.

2014: A group of researchers from Harvard Medical School, Boston Children’s Hospital, and NIH’s Pediatric Heart Network found Losartan, an angiotensin receptor blocker, as effective as beta-blockers in slowing the enlargement of the aorta in patients suffering from Marfan Syndrome. This offers physicians an alternative option for patients who experience side effects with beta-blockers. There has also been some evidence (from past studies) that angiotensin receptor blockers may, in fact, be superior to beta blockers in Marfan syndrome treatment.

Who Are Some Of The Key Opinion Leaders / Researchers / Institutions Conducting Marfan Syndrome Clinical Trial Research?

The Marfan Foundation: This non-profit organization works to improve awareness and knowledge and promote research for Marfan syndrome and a range of other genetic vascular and aortic conditions to save lives and help people suffering from these diseases live better quality lives.

Stanford Center for Marfan Syndrome and Related Aortic Disorders: One of the nation’s leading diagnostic and treatment centers for Marfan syndrome, this California-based institute provides multidisciplinary services to help with disease management. The center also conducts advanced genetic molecular research to improve care and treatments for Marfan Syndrome and related aortic conditions.