Public Announcement
Phone: (617) 919-1379
Address: 300 Longwood Ave, Boston MA 02115
Number of CCM outpatient appointments in 2022: 165, of which 62 were new patients
Number of CCM research publications 2012-2017: 17
Patients may also be seen at Boston Children’s at Waltham, Boston Children’s at Peabody, and Boston Children’s at Dartmouth.
Lodging Options
Faculty
Medical Director and Pediatric Cerebrovascular Neurosurgeon: Edward Smith, MD
Pediatric Neurologists: Michael Rivkin, MD and Laura Lehman, MD
Pediatric Epileptologist: Phillip Pearl, MD
Geneticist: Siddharth Srivastava, MD
Neurointerventional Radiologists: Darren Orbach, MD, PhD and Alfred See, MD
Researchers: Edward Smith, MD, Alfred See, MD, and Aram Ghalali, PhD
Nurse Coordinator: Jennifer Judge, MSN-FNP and Christopher Isibor , FNP-BC
Program Coordinator: Connor Henry and Elisa Gonzalez
Informal Case Review
Dr. Edward Smith has offered to do a free informal, online-only case review for our pediatric patients (a full formal review at BCH is $600). Parents should contact Connor Henry, Program Coordinator, at 617-919-1379 to make arrangements. Please note that the free informal review does not include a face-to-face meeting with Dr. Smith or any of the members of the care team.
Summary of Boston Children’s Hospital Research Program
Boston Children’s Hospital has been actively engaged in clinical and translational research related to cavernous malformations. The hospital encompasses the Vascular Biology Program (VBP), headed by Dr. Marsha Moses, one of the largest basic and translational research programs in the world focused on vascular disease. There are ongoing protocols for patient-derived cell lines for therapeutic targeting (DFCI 10-417), small molecule drug delivery targeting, and urinary biomarker screening (AS 10-076-7) translational work. There are numerous basic studies, primarily done in the VBP looking at endothelial cell biology and migration.
The Brain Vascular Malformations Consortium is a multi-center, multi-disease research study aimed at investigating the clinical variability of three rare brain blood vessel diseases, Sturge Weber Syndrome (SWS), Hereditary Hemorrhagic Telangiectasia (HHT), and Cerebral Cavernous Malformations (CCM). Dr. Smith’s group at BCH has recently joined the CCM Study team as a research partner and recruitment site. Adult and pediatric patients with multiple lesions and family history, or with positive genetic testing for mutation in CCM1, CCM2, or CCM3 may enroll in the study. To help researchers understand better the natural variability of CCM disease, participants agree to share their medical and imaging history with the study team and to be contacted each year for five years for follow-up questioning. Study participants also provide a blood and/or saliva sample for genetic analysis and a stool sample for microbiome analysis.
Lastly, there are several ongoing clinical studies, including a long-term follow-up and outcomes study (CR 127-54-2) for pediatric cavernous malformations.
Patient Education/Support
Includes a dedicated web page for CCM, a nurse hotline, and patient lectures at BCH in Boston.
Medical Provider Education
Includes Grand Rounds and incorporation of CCM in medical school training.
Updated on 02.15.2024
