What collaborations does the NMF have with different bodies of government?
NIAMS has been instrumental in working with the NMF to establish a strong Marfan research portofolio at the institute. This institute has been the major supporter of government research funding for Marfan scientists and physicians. Working with the institute, the NMF and members of the Coalition of Heritable Disorders of Connective Tissue Disorders have been able to encourage a specific request for applications for proposals in the area of connective tissue disease, NIH sponsored scientific meetings on Heritable Disorders of Connective Tissue and program project grants on Marfan syndrome.
In recent years, National Heart Lung and Blood Institute (NHLBI) has worked closely with the NMF to help establish a research program at the institute. In 2002, the NHLBI established the institute’s first working group meeting on Marfan syndrome entitled “Aortic Disease and Valvular Complications of Marfan Syndrome.” This meeting resulted in the establishment of the NHLBI and NIAMS sponsored study “National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions. (GenTAC)” The information collected through this registry will help doctors to better understand the link between genes, aneurysms and heart disease. GenTAC will also enable research to determine the best ways to manage the complications of cardiovascular disease that can arise from some genetic disorders.
In 2007, a second working group meeting was conducted by the NHBLI in New York City in conjunction with the National Marfan Foundation to discuss the current state of knowledge in Marfan Syndrome and related conditions (e.g., familial thoracic aortic aneurysms and dissections, Ehlers-Danlos Syndrome, Loeys-Dietz Syndrome). The goal of this meeting was to identify opportunities and barriers to advancing the research agenda and make recommendations to the institute about areas in which NHLBI leadership is required.
Based on the studies by Hal Dietz, MD and colleagues presented in the April 7, 2006 issue of Science magazine, the Pediatric Heart Network of NHLBI made its biggest investment in Marfan research by developing the “Atenolol vs. Losartan Clinical Trial in Patients with Marfan Syndrome.” This trial is being conducted over a six year period and will enroll 604 participants aged 6 months to 25 years at twenty six leading medical institutions. If successful, this new therapy could eliminate the need for life-threatening aortic surgery and dramatically improve the overall quality of life for those affected by Marfan syndrome and related disorders. The NMF is working closely with the institute to promote the trial through media outlets, to encourage participation in the trial and to provide financial support for patients. Furthermore, the NMF is supporting additional research studies to be done in conjunction with the clinical trial to leverage the structure NHLBI has provided. Making this trial as comprehensive as possible by incorporating additional studies in multiple body systems will allow us to capture the critical data needed to determine the full extent of the potential treatment in an already established patient population as determined by this trial.