Poster Presentations & Publications

Poster Presentations

Cure Sanfilippo Foundation regularly presents poster presentations regarding Sanfilippo syndrome. Additionally, researchers supported by funding from Cure Sanfilippo Foundation present and share their research globally.

Open-label clinical trial of anakinra in mucopolysaccharidosis type III: Interim analysis

WORLDSymposium 2021 | Feb. 10, 2021

Read interim analysis of the open-label study of anakinra in MPS III.

Parent Prioritization of Meaningful Treatment Targets for Sanfilippo Syndrome

WORLDSymposium 2020 | February 2020

Learn more about the open-label study of anakinra in MPS III.

Re-positioning of FDA-approved drugs for the treatment of mucopolysaccharidoses

Conference of Telethon Fundamental Associations (Italy) | October 2019

Research institute TIGEM (Telethon Institute of Genetics and Medicine) presented the preliminary results of two studies funded by Cure Sanfilippo Foundation in this poster presentation.

Learn more about these research projects to explore re-positioning and re-purposing FDA-approved compounds to determine if identify they can activate the clearance of pathologic lysosomal accumulation in MSD cellular models independently of the missing enzyme in each particular disease.

Meaningful Treatment Outcomes for Sanfilippo Syndrome: A Study of Caregiver Preferences and Prioritization

WORLDSymposium 2019 | February 2020


Learn more about the Foundation-led Caregiver Preference Study.

Caregiver Perceptions About Neurocognitive Testing and Factors Affecting its Accuracy in Children with Sanfilippo Syndrome (MPS III)

Where | When

Caregiver Preference post presentation for Sanfilippo Syndrome, MPSIII

Learn more about the Foundation-led Caregiver Preference Study.

The Natural History of Facial Features Observed in Sanfilippo Syndrome (MPS IIIB) Using a Next-Generation Phenotyping Tool

Where | When

Sanfilippo Syndrome, Type B, (MPSIIIB) facial features observed using next-gen phenotyping tool

Learn more about the Foundation-led Caregiver Preference Study.

Patient Advocacy Group and Industry Collaborate to Establish Distinct Sanfilippo Syndrome (MPS IIIB) Facial Phenotype for Use in Facial Dysmorphism Recognition Software Tool

Where | When

Distinct facial phenotype for Sanfilippo Syndrome (MPSIII)

Learn more about the Foundation-led Caregiver Preference Study.

Publication of Foundation-led Research

These are publication of Sanfilippo research and/or projects led by Cure Sanfilippo Foundation.

“Caregivers’ assessment of meaningful and relevant clinical outcome assessments for Sanfilippo syndrome”

Journal of Patient Reported Outcomes | April 2022

“Parent Experiences of Sanfilippo Syndrome Impact and Unmet Treatment Needs: A Qualitative Assessment”

Neurology and Therapy | December 2020

“Development of a Clinical Algorithm for the Early Diagnosis of Mucopolysaccharidosis III”

Journal of Inborn Errors of Metabolism and Screening | June 2020

Publication of Research Funded or Contributed to by Foundation

These are publication of Sanfilippo research and/or projects that received funding and/or strategic support from Cure Sanfilippo Foundation.

“Lysosomal positioning diseases: beyond substrate storage”

Gianluca Scerra, Valeria De Pasquale, Melania Scarcella, Maria Gabriella Caporaso, Luigi Michele Pavone, and Massimo D’Agostino | Open Biology | 2022

“Fluorometric coupled enzyme assay for N-sulfotransferase activity of N-deacetylase/N-sulfotransferase (NDST)”

Joshua Atienza, Ilona Tkachyova, Michael Tropak, Xiaolian Fan, and Andreas Schulze | Glycobiology | 2021

“Altered heparan sulfate metabolism during development triggers dopamine-dependent autistic-behaviours in models of lysosomal storage disorders”

De Risi, M., Tufano, M., Alvino, F.G. et al. | Nature Communication | 2021

“The Amyloid Inhibitor CLR01 Relieves Autophagy and Ameliorates Neuropathology in a Severe Lysosomal Storage Disease.”

Molecular Therapy | April 2020

“Protein Aggregation and Dysfunction of Autophagy-Lysosomal Pathway: A Vicious Cycle in Lysosomal Storage Diseases.”

Frontiers In Molecular Neuroscience | March 2020

“Analysis of the caregiver burden associated with Sanfilippo syndrome type B: panel recommendations based on qualitative and quantitative data”

Orphanet Journal of Rare Diseases | July 2019

Sanfilippo Medical Literature References

A selection of published medical literature on Sanfilippo syndrome is available elsewhere on the Foundation’s website.