| Enrolling | Observational | Multi-Center Site | Andrew T. Hale & Jesse Jones |
Vein of Galen malformations (VOGMs) are the most common and severe neonatal blood vessel anomaly of the human cerebral vasculature. VOGM are the result of abnormal connections between arteries, veins, and capillary vessels during neonatal development. Even with neurosurgical intervention, VOGM can cause systemic problems such as cardiac failure due to the heart’s inability to accommodate the largest amount of blood flow into the venous system. The VOGM may also cause increased intracranial pressure, leading to brain hemorrhage or impaired draining of cerebrospinal fluid resulting in hydrocephalus (i.e., accumulation of cerebrospinal fluid in the brain). These problems may be life-threatening. Despite this, the cause of VOGM is largely unknown, but is widely hypothesized to be caused by genetic abnormalities.
We have created VOGM Genetics Research Consortium (VOGM-GRC), an international multi-institutional network of the world’s leading pediatric neurosurgeons, endovascular specialists, vascular neurologists, and geneticists/molecular biologists, to elucidate the genetic basis of VOGM. We will aggregate genetic data from both germline (i.e., cheek swab DNA) as well as endoluminal biopsy of the VOGM lesion directly. Our study will identify causative genetic and molecular factors governing VOGM development and maintenance, with the goal of repurposing or developing novel pharmacologic therapies to improve VOGM treatment. Finally, our study serves as an archetype for applying endoluminal biopsy techniques to pediatric cerebrovascular disease more broadly. Understanding the genetic basis of VOGM may broadly inform our understanding of cerebrovascular development and disease pathogenesis; improve clinical prognostication and decision-making; and provide a mechanistic foundation for the rationale use of repurposed drugs and/or design of targeted therapeutics relevant for VOGM and potentially other cerebrovascular lesions.
We request donation of DNA from patients affected by VOGM and their families. We will mail cheek swab kits/instructions and a consent form to your home with a paid return-shipping label. Takes less than two minutes to complete!
Sponsor: The Aneurysm and AVM Foundation, Joe Niekro Foundation, Kaul Pediatric Research Institute at Children’s of Alabama, University of Alabama Department of Neurosurgery, Balt Cerebrovascular, Medtronic
Are you seeking other sites to participate?: Yes
Are you seeking patients/families to participate?: Yes
Contact information: Andrew T. Hale, MD, PhD (Co-PI, ), Jesse Jones, MD (Co-PI, ), Caroline (Tori) Caudill (Study Coordinator, )