Familial Cerebral Cavernous Malformations (CCMs)
from OrphaChat — a Rare Disease Podcast Hosted by RCH
In this episode, we explore the evolving landscape of Cerebral Cavernous Malformations (CCMs), covering the latest 2025 clinical care guidelines and the distinct genetic drivers behind familial and sporadic cases, including mutations in KRIT1, CCM2, PDCD10, and PIK3CA. We discuss the nuance of management strategies, ranging from conservative observation and microsurgical resection to minimally invasive Laser Interstitial Thermal Therapy (LITT) for epilepsy and deep-seated lesions. Finally, we review the current status of pharmacological research, noting the discontinuation of the REC-994 trial while highlighting promising developments in focused ultrasound and ROCK inhibitors like NRL-1049.
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