Cure Sanfilippo Foundation is funding the first year of a two-year study of antifungal immunity in patients with mucopolysaccharidosis (MPS) by investigator Neta Shelzinger, PhD, at Koret School of Veterinary Medicine in collaboration with Sheba Institute for Rare Diseases at The Edmond and Lily Safra Children’s Hospital.
Respiratory infections affect approximately 90% of patients with MPS. Pneumonia is one of the leading causes
of mortality in Sanfilippo Syndrome Types A and B. Remarkably, the etiology for the majority of MPS-associated
pneumonia remains unknown.
The innate immune-response to phagocytosed fungal cells includes up-regulation of the glycosaminoglycan (GAGs) degradation pathway in activated neutrophils. This process is triggered by fungal GAGs, fungal cell wall components essential for biofilm formation and immune response modulation during invasive infection.
Findings indicate that host degradation of fungal GAGs is a general feature of the anti-fungal immunity.
Moreover, studies suggest that GAGs build-up may facilitate microbial invasion and niche establishment, yet,
little is known about the underlying mechanisms and the impact on the pathogenesis of MPS-associated
This study of antifungal immunity in patients with MPS leverages the power of bedside-to-bench research to study a cohort of Sanfilippo MPSIIIA children.
The study aims are to (1) Determine the role of GAG degradation in antifungal immunity, and (2) Define the MPS airway
microbiome and establish its role in pathogenesis of MPS-associated pneumonia.
Additionally, the study hopes to gain insights into the role of GAGs in recurrent respiratory infections at large.
This study on antifungal immunity in patients with MPS may help understand why pneumonia is the leading cause of death in Sanfilippo Syndrome and may lead to better therapeutic strategies to treat lung infections.
Information this study gathers on the microbiome and mycobiome of Sanfilippo patients is important for creating an understanding from which future research can be built.
Learn more about research supported by the Foundation.
Learn about obtaining research funding from the Foundation.