NM Congressional Delegation Introduces Bill to Expand Research on Rare Genetic Disease Affecting Hispanics

U.S. Senators Tom Udall and Martin Heinrich and U.S. Representatives Ben Ray Luján, and Michelle Lujan Grisham announced they have introduced a bill to increase research, education and treatment for Cavernous Cerebral Malformations (CCM), an uncommon genetic blood vessel disease that impacts the brain and spinal cord, and affects people of Spanish descent, including many Hispanic New Mexicans. The lawmakers’ bill, the Cerebral Cavernous Malformations Clinical Awareness, Research and Education Act (CCM-CARE) would expand National Institutes of Health (NIH) research related to CCM through grants and programs to increase awareness, treatment and prevention of CCM.

The disease, also called Cavernous Angioma, was common among Spanish settlers in the Southwest, and the hereditary mutation that continues to cause it today has passed through 17 or more generations. CCM is characterized by vascular lesions that develop and grow within the brain and spinal cord. Individuals often are not aware they have the disease until they experience the onset of symptoms, which may include neurological deficits, seizures, stroke, or sudden death. An estimated 1.5 million people in the United States suffer from the disease, which is more prevalent among New Mexicans than any other population in the world, though other Southwestern states also have high rates of CCM. Due to limited research, there is currently little treatment for CCM besides surgery, which is an option only for some patients.

“Sadly Cerebral Cavernous Malformations is difficult to diagnose and has few treatment options, but this bill is an important step along the path toward developing a cure for the New Mexicans and their families who suffer from this disease,” said Udall, who has worked to raise awareness about CCM since he was a member of the House. “Boosting CCM research through expanded efforts and interagency collaboration will help to prevent, treat and ultimately cure this devastating disease.”

“Hispanics are disproportionately affected by Cavernous Angioma,” said Heinrich. “Expanding research and treatment centers across the country to identify, monitor, and treat individuals afflicted with this illness is an important step in improving the livelihoods of many New Mexicans and developing a cure.”

“This legislation takes critical steps to bolster research, education, and treatment of Cerebral Cavernous Malformations,” said Luján. “This devastating blood vessel disease is often inherited unknowingly, and New Mexico has the highest population density in the world. It’s time that we invest in research and programs to better understand this rare disease that continues to impact New Mexico families.”

“I’m proud to stand with the delegation to invest in research and raise awareness about the devastating impact CCM has, particularly among native New Mexicans,” Lujan Grisham said. “I will continue to work with my colleagues to support efforts to find a cure for this disease.”

Specifically, CCM-CARE would direct the heads of NIH, Centers for Disease Control and Prevention and the U.S. Food and Drug Administration (FDA) to implement the following measures to further CCM research:

– Conduct basic, clinical and translational research on CCM; identify and support three national research centers’ collaboration on multi-site clinical drug trials; and integrate CCM within relevant existing clinical research networks to expand access to clinical drug trials to CCM patients.

– Establish a CCM education and information program under the U.S. Department of Health and Human Services (HHS) to expand training for clinicians and scientists; establish a CCM Coordinating Committee at HHS to coordinate all federal CCM health efforts, facilitating the exchange of information and the effectiveness of research efforts; and award grants for CCM surveillance and epidemiology.

– Support appropriate investigational new drug applications and streamline the process from clinical drug trials to review for CCM treatment; and review appropriate request for designations for orphan drugs for CCM.

The proposed legislation is supported by the University of New Mexico Health Sciences Center, the Angioma Alliance Board of Directors, the Angioma Alliance Scientific Advisory Board, and Cure HHT.