Treating Vascular Malformations Using the Cancer Drug Trametinib

Principal Investigator: Dr. Joyce Teng
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Disease: Extracranial arteriovenous malformations

Research Description: Extracranial arteriovenous malformation (AVM) is a network of abnormal blood vessels more common in the face, head or neck, which can cause tissue overgrowth, pain, ulceration, disfigurement and functional impairment. Children with AVM usually need repeated high-risk surgical interventions throughout their lives, which are associated with complications including bleeding/pain, end organ damage, surgical site complications and cardiac failure. Currently, there is no FDA approved medical treatment for this debilitating condition. Trametinib is FDA approved treatment for melanoma, which can inhibit the molecular pathway involved in AVM development. This clinical trial will enroll pediatric patients to test the ability of trametinib to slow AVM development and improve patient quality of life. The successful repurposing of trametinib may allow physicians to manage AVM before it progresses to more advanced stages that will affect other organ systems. For patients with extensive diseases, this therapy also offers a possible treatment to reduce the frequency and risks of surgical interventions and stabilize disease progression.

Funding Partners: The Charles H. Hood Foundation

CWR funding role: Primary funder