As a neurodegenerative disease characterized by childhood onset dementia, Sanfilippo syndrome causes immense suffering in many ways, including pain, loss of speech, extreme agitation, and distress, gastrointestinal symptoms, and profound sleep disturbance. With no approved treatment, clinical specialists have had few options to help alleviate this suffering until now. A groundbreaking clinical trial collaboration between study lead and principal investigator Lynda Polgreen, MD, MS, Investigator at The Lundquist Institute for Biomedical Innovation at Harbor-UCLA (TLI) and Associate Professor of Pediatrics at the David Geffen School of Medicine at UCLA and Cure Sanfilippo Foundation's Chief Science Officer and study co-investigator, Cara O'Neill, MD, FAAP, used an innovative approach to treat this disease by targeting neuroinflammation, as it is thought to be a key contributor to disease symptoms.
Dr. Polgreen's team used anakinra, a recombinant interleukin-1 receptor antagonist, in children and young adults with moderate to advanced stages of the condition, meaning they were all experiencing debilitating, life-limiting symptoms at the time of study enrollment. While ongoing clinical trials are searching for a cure for Sanfilippo syndrome, such trials are restricted to specific disease subtypes and include only the youngest of children exhibiting very few symptoms because the disease is considered irreversible.
This has left more than 99% of the Sanfilippo population without an.
