Rare Disease Day Raises Awareness, Promotes Access to Treatment
Washington, D.C. – Today, U.S. Senator Ben Ray Luján (D-N.M.), a member of the Senate Committee on Health, Education, Labor and Pensions, and U.S. Senator Martin Heinrich (D-N.M.) reintroduced the Cerebral Cavernous Malformations Clinical Awareness, Research and Education Act (CCM-CARE) which would expand National Institutes of Health (NIH) research related to cerebral cavernous malformations.
Nationwide, an estimated 600,000 Americans are affected by Cerebral Cavernous Malformations (CCM), and due to limited research, there is currently no treatment for CCM other than brain and spinal surgery for certain patients. Additionally, the shortage of trained physicians makes providing skilled and timely diagnosis and appropriate care for CCM challenging.
The CCM-CARE Act directs the NIH Director to: conduct basic, clinical, and translational research on CCM; identify and support three national clinical and research Coordinating Centers to collaborate on multi-site clinical drug trials for cavernous angioma; and integrate CCM within relevant existing clinical research networks (e.g., Stroke Network) to become CCM clinical and research Participation Centers in order to participate in clinical drug trials. This legislation would also direct the Secretary of Health and Human Services to establish a CCM education and information program within Coordinating and Participation Centers to expand training programs for clinicians and scientists.
“On Rare Disease Day, I’m proud to reintroduce legislation to further develop Cerebral Cavernous Malformations (CCM) research and strengthen NIH capabilities to increase awareness, treat, and prevent this disease. Each year, an estimated 600,000 Americans are affected by CCM, which can cause seizures, strokes, and sudden death. This must change,” said Luján. “It’s critical that we leverage every tool to protect and educate our communities, including those in New Mexico and the Southwest who are disproportionately affected by CCM.”
“Cerebral Cavernous Malformations affect Hispanics in New Mexico at an alarmingly higher rate than other ethnicities,” said Heinrich. “By expanding research and treatment centers across the country to identify, monitor, and treat individuals afflicted with this illness, we can take an important step to develop a cure. Today, on Rare Disease Day, I am proud to introduce this legislation with Senator Luján to expand NIH research in New Mexico.”
“There is no treatment for Cerebral Cavernous Malformations except for highly invasive neurosurgery. During the past decade, the biomedical research community has made important strides toward understanding the underlying cause of the initiation, growth, and development of CCMs. However, the translation of these advances to a scientifically-based treatment and cure has been lagging. Funding and support for multidisciplinary teams of physicians and researchers are required to realize the potential of the past decade with the development of a lasting cure. The ability to treat CCM patients without surgery will benefit thousands of patients in New Mexico and more than one hundred thousand patients across the United States,” said Dr. Douglas Marchuk, Chair of the Alliance to Cure Cavernous Malformation’s Scientific Advisory Board.
“Like many rare diseases, CCM remains an illness without a treatment. The CCM-CARE Act of 2023 highlights the impact of the disease across the United States, where 1 in every 500 people is affected, and especially in New Mexico, where the illness is even more common. This bill offers solutions to relieve families’ suffering by advancing treatments and a cure. We are grateful to Senator Luján for his leadership on behalf of our families,” said Dr. Connie Lee, CEO of the Alliance to Cure Cavernous Malformation.
“Cerebral cavernous malformations can lead to seizures, stroke and death. As neurosurgeons who treat patients with this disease, we appreciate the leadership of Senators Luján and Heinrich in sponsoring the Cerebral Cavernous Malformations Clinical Awareness, Research and Education Act to help expand research and treatment options for patients with this rare but devastating medical condition,” said Russell R. Lonser, MD, Chair of the American Association of Neurological Surgeons/Congress of Neurological Surgeons Washington Committee.
The legislation is supported by the Alliance to Cure Cavernous Malformation, American Association of Neurological Surgeons, and the Congress of Neurological Surgeons.
Full text of the legislation is available HERE.