NM Delegation Introduces CCM-CARE Act to Expand Research on Rare Genetic Disease Prevalent Among New Mexico Hispanics

WASHINGTON - Today, U.S. Senators Tom Udall and Martin Heinrich, and U.S. Representatives Ben Ray Luján, Deb Haaland and Xochitl Torres Small, introduced legislation 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 is more prevalent among Hispanics in southwestern states like New Mexico, Texas, Arizona, and Colorado. The Cerebral Cavernous Malformations Clinical Awareness, Research and Education Act (CCM-CARE) would expand National Institute of Health (NIH) research to increase awareness, treatment and prevention of CCM in New Mexico and nationwide.

CCM is characterized by vascular lesions that develop and grow within the brain and spinal cord. Most people with the disease don’t realize they have it until they experience symptoms, which include neurological deficits, seizures, stroke, or sudden death. Due to limited research, no cure currently exists for CCM and the few existing treatment options, such as brain and spinal surgery, are only viable for a limited number of patients.

Additionally, a shortage of physicians trained to recognize and diagnose CCM further complicates matters. CCM currently affects about 600,000 people in the U.S. and a second mutation, CCM2 Common Deletion, has been found in states such as South Carolina, Georgia, Florida, Alabama, Mississippi, Louisiana, Oklahoma, Kentucky, Kansas, and California.

“A disproportionate number of Hispanics in New Mexico are suffering from this rare and tragic disease, and it is past time that we raise awareness and harness the immense capabilities of our medical research institutions to find affordable and accessible treatments for Cerebral Cavernous Malformations,” said Udall, who has worked to raise CCM awareness since he was a member of the House. “Through interagency collaboration, and increased physician and patient training, we will expand CCM research — bringing us one step closer to preventing, treating, and curing this devastating disease.”

“It is critical for the health of Hispanic communities that we invest in research-based prevention efforts for rare genetic disorders. I’m proud to introduce this legislation, along with my colleagues, to increase awareness and expand treatment options for CCM to halt the disproportionate impact it has on Hispanics. I will continue fighting to ensure every New Mexican has quality, affordable health care,” said Assistant Speaker Luján.

"Cavernous Angioma affects Hispanics in New Mexico at an alarmingly higher rate than other demographics," 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 improve the livelihoods of New Mexicans and set our sights on developing a cure."

“Everyone in New Mexico deserves to live a quality, healthy life, but many Hispanic families in our state face Cerebral Cavernous Malformations, a disease in their brains that our science doesn’t fully understand. Our bill will help us learn more so we can treat and maybe one day prevent New Mexicans from suffering with the health effects related to the disease,” said Deb Haaland. 

“Our country’s medical institutions are global leaders in research finding cures and treatments to some of the most pressing diseases of our time. It is time that Cavernous Cerebral Malformations (CCM) receives the attention and research funding it deserves, so we can provide some meaningful hope to the disproportionate number of Hispanics in New Mexico suffering from this debilitating condition and one day prevent it from afflicting future generations,” Torres Small said.

The legislation has received support from the Angioma Alliance. "We are grateful to Senator Udall and Representative Luján for recognizing the critical need for additional research and resources to find solutions for a disease that has devastated the lives of so many in our CCM patient community. CCM is an illness that crosses geography and generations. The CCM-CARE Act provides a map that points us toward a future with a better understanding of CCM and related illnesses and with less invasive treatments for all," said Connie Lee, Psy.D., President and CEO, Angioma Alliance.

"The CCM-CARE bill brings hope for thousands of American patients and their care givers who suffer from cerebral cavernous malformation (CCM). Comprehensive research funding that stimulates collaboration among physicians, patients, bench scientists, epidemiologists, public health specialists, and advocates, can lead to development of treatment for this otherwise untreatable disease. Since New Mexico has a large number of patients with CCM, this bill, once approved, will positively impact the many lives of our CCM population in this state and the region. The research funding will not only help improve quality of life in current CCM patients but will also assist in finding a cure for our future generations affected by this genetic syndrome," said Atif Zafar, Medical Director of the CCM Center of Excellence at UNM.

“The CCM-CARE Bill is a bright promise in a disabling disease affecting too many Americans, and currently lacking any proven treatment. The funded CCM Centers will catalyze collaborations between researchers and clinicians, and accelerate the translation of novel discoveries directly to the afflicted patients and their families. Biomarkers and therapies developed in this disease will help patients with other vascular anomalies and brain bleeding, ” said Issam A. Awad, MD, MSc, FACS, MA (hon), Medical Director, HHT and CCM Centers of Excellence.

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

- Provide updated information on scope of CCM and highlights the lack of research and treatment options for those with the disease.

- Expand the coordination and scope of research at NIH so that they can further pursue clinical, translational, and basic research.

- Require the NIH Director to convene a CCM Consortium to develop and implement physician and patient training plans.

- Provide assistance for small biotech firms to request prioritized funding to research and develop treatment options.

- Require the CDC Director to award grants that will help obtain better CCM data through Surveillance and Research Programs.

- Instructs HHS Secretary to award grants to entities to further CCM data gathering under the National CCM Epidemiology Program.

- Requires HHS to provide technical assistance and coordination with Clinical Centers to award grantees.

- Instruct the HHS Secretary to have the FDA commissioner establish and coordinate a Biomarker Qualification Program and a Clinical Outcome Assessment Qualification.

- Require coordination of the HHS Secretary and FDA Commissioner to support Investigational New Drug Applications to hasten clinical trials and promote Adaptive Trial Design and Expedited Pathways for rare disease research.

The full text of the bill can be found HERE. A one-page summary of the bill can be found HERE.