Connective Issues Winter 2023

Study Provides Compelling Results for MARFAN TREATMENT

In late August, The Lancet published the findings from a meta-analysis of seven global clinical trials with data from 1442 participants with Marfan syndrome. Funding from The Marfan Foundation assisted researchers from the United Kingdom, Canada, Spain, United States, Netherlands, and Belgium in the analysis. The primary aim of the study was to estimate the e ff ects of angiotensin receptor blockers

Hospital, the lead author of the study. “We think that is really important for patients because it will slow the rate at which the aorta expands and that may delay the need for surgery.” The study also provided indirect evidence supporting the use of beta blockers in Marfan syndrome, adding to the evidence already available for this treatment.

Supporting research is one of The Marfan Foundation’s critical mission areas. Providing funding to Dr. Pitcher and his colleagues at Oxford University to take on this challenging task of analyzing all eligible trials for which data was available will provide significant clarity for therapeutic options for our patient community and help to improve the lives of those with genetic aortic and vascular conditions. This meta-analysis included the clinical trial by the National Heart, Lung, and Blood Institute and the

(ARB) and beta blockers on the rate of aortic root enlargement in patients with Marfan syndrome. The results indicated that ARBs (such as losartan and irbesartan) significantly reduce the rate of aortic enlargement by about half with or without beta blockers. This e ff ect was generalizable to di ff erent types of patients. In particular, ARBs were e ff ective even among those already taking a beta

blocker. The rate-reducing e ff ect was particularly large among patients with a disease-causing (pathogenic) FBN1 gene mutation compared to those without an FBN1 variant, providing biological support for the e ff ect. “The meta-analysis has shown that the two treatments under study, angiotensin receptor blockers and beta blockers, are e ff ective in patients with Marfan syndrome,” said Alex Pitcher, DPhil, Oxford University

p Alex Pitcher, DPhil, with Shaine Morris, MD, at Science in Paris

Pediatric Heart Network—and supported by The Marfan Foundation—which showed losartan was e ff ective in the treatment of Marfan syndrome. This initial trial continues to spur important findings for our community.

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Winter 2023