Address: 3400 Spruce Street, 3rd Floor Silverstein, Philadelphia, PA 19104
Number of CCM outpatients seen in the last year (2020-2021): 150
Number of CCM inpatient days in the last year (2020-2021): 80
Number of CCM research publications (2016-2021): 15
Information from Penn Medicine about their cavernous malformation program
Medical Director and Cerebrovascular Surgeon: Dr. Jan-Karl Burkhardt
Nurse Coordinator: Ellen Smith
Cerebrovascular Neurologist: Dr. Steven Messe
Epileptologist: Dr. Kathryn Davis
Genetics: Dr. Katharine Nathanson
Radiologist: Dr. Linda Bagley
Neurosurgery: Dr. Eric Zager
Neurosurgery: Dr. Brian Jankowitz
Neurosurgery: Dr. Daniel Yoshor
Pediatric Neurology: Dr. Lauren Beslow
Pediatric Neurosurgery: Dr. Shih-Shan Chen
Research: Dr. Mark Kahn
Summary of Penn Medicine’s CCM Research Program
Our cerebral cavernous malformation (CCM) research at Penn focuses on clinical, basic science, and translational aspects of the disease. With Dr. Mark Kahn, Penn Medicine has a world leader in basic science and animal model research for CCMs with multiple ongoing and NIH-funded projects. Dr. Jan Burkhart brings a clinical perspective of CCM and collaborates with Dr. Kahn. Dr. Burkhardt has also created a tissue data bank for surgical resected vascular malformations including cavernous malformations. He has started a collaboration on Mark Kahn’s animal CCM model to further study the natural history and medical treatment options for CCMs, including the molecular underpinnings of CCMs, to further understand the different phenotypes of patients with cavernous malformations (e.g. hemorrhage, progression). These interesting research questions may lead to medical therapy options similar to the currently tested propanolol and statin medications to stabilize the disease or decrease lesion size.
Penn is also the center for microbiome research as it relates to cavernous malformations. Dr. Kahn’s landmark paper showed us that naturally occurring bacteria in the gut flora may modulate the CCM1 or CCM2 genes and lead to activation or inhibition of the cavernous malformation phenotype. There is not much known about the signaling pathways for these phenomena and more research is needed.
In terms of clinical research, Penn Medicine started a prospective clinical outcome database to evaluate and follow all our surgically treated and conservatively observed patients. This database also includes surgical approaches to further improve and minimize surgical approaches for patients in need of surgery. We are also participating in prospective medical therapy trials here at Penn to offer a medication option to patients with symptomatic or multiple cavernous malformations.
patient education and support
Penn Medicine offers patient education on its website and through the Alliance to Cure Cavernous Malformation Patient Guide. Dr. Burkhardt has been a presenter in Alliance to Cure Cavernous Malformation’s webinar series and hopes to become active in an Alliance to Cure Cavernous Malformation Community Alliance chapter.