What collaborations does the NMF have with different bodies of government?
- Congress: The Department of Health and Human Services oversees government funding for research and healthcare. By working with House and Senate congressional members and many other advocacy agencies, the NMF can help shape important legislation that will have a positive impact on the Marfan community. We specifically encourage report language for appropriations bills and written or oral testimony for the Marfan syndrome to help bring awareness to legislators and to secure funding for research by the National Institutes of Health (NIH) primarily by National Institute for Arthritis and Musculoskeletal and Skin Diseases (NIAMS) and the National Heart, Lung and Blood Institute (NHLBI). The NMF has an accomplished history in obtaining Appropriations Bill Report Language in addition to providing oral testimony at the House and Senate hearings to the Appropriations Subcommittee for Labor, Health and Human Services.
- National Institutes of Health: In addition to working directly with Congress, the NMF has developed a strong relationship with the National Institutes of Health, namely the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) and the National Heart Lung and Blood Institute (NHLBI).
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.
- Center for Disease Control (CDC): The NMF has developed significant relations with and has joined the CDC’s National Center on Birth Defects and Developmental Disabilities (NCBDD) External Partners Group. This coalition is comprised of organizations with an interest in the mission of the NCBDD. Outreach to the leadership of the NCBDD has begun regarding the need for early diagnosis and prevention of aortic dissection.
- Social Security Administration: The NMF has worked closely with the Social Security Administration to help clarify the functional limitations that sometimes arise with Marfan syndrome. We have been instrumental developing an informational video on Marfan syndrome to educate adjudicators about the disabling effects of this condition. In addition, we provided medical information which prompted changes to the guidance for cardiovascular listings for Marfan syndrome. We are also actively participating in the implementation of the new "compassionate allowances" policy for disability claims involving rare diseases.