Connie Lee, PsyD, Chief Executive Officer of Alliance to Cure Cavernous Malformations, discusses cerebral cavernous malformation (CMM) and the diversity of patient advocacy group initiatives.
CMM is a rare, capillary-venous malformation characterized by closely clustered irregular dilated capillaries that can be asymptomatic or that can cause variable neurological manifestations. These can include seizures, non-specific headaches, progressive or transient focal neurologic deficits, and/or cerebral hemorrhages. About 70% of people with CMM are unaware of the condition until a major event occurs and they are formally diagnosed via MRI. About 25% of patients have an autosomal dominant genetic form that can be detected with genetic testing.
The Alliance to Cure Cavernous Malformations was founded about 23 years ago and has since developed a robust network of patients, researchers, and clinicians. They provide free genetic testing for patients as well as centers of excellence, virtual support groups, patient navigation services, and patient conferences.
As Dr. Lee explains, patient advocacy groups are vital to the rare disease community. Her presentation at the 2025 World Orphan Drug Congress (WODC) highlighted ways in which industry partners can evaluate and find benefit in patient advocacy groups. While patient advocacy groups focus on providing support and resources to patients, many of them are also involved in the basic and translational science communities.
Dr. Lee and her colleagues put together a guide that shows all dimensions of patient advocacy groups and the diverse initiatives that they have in hopes that industry partners gain knowledge and see ways in which these organizations can be beneficial partners.
To learn more about rare neurological conditions, visit https://checkrare.com/diseases/neurology-nervous-system-diseases/