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 abstract of the open-label study of anakinra in MPS III at the link below. Access the published end-of-study clinical trial results, “Anakinra in Sanfilippo syndrome: a phase 1/2 trial,” in the June 2024 edition of Nature Medicine.
Parent Prioritization of Meaningful Treatment Targets for Sanfilippo Syndrome
WORLDSymposium 2020 | February 2020
This poster presentation was part of the Foundation’s larger work to capture and share the perspective of caregivers for children with Sanfilippo Syndrome to help better inform the selection and development of clinical trial endpoints to reflect desired treatment benefits across the lifespan of the children.
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 2019
Abstracts of this poster presentation are available: 1) Program and AbstractsWORLDSymposium™ 2020*16th Annual Research Meeting – ScienceDirect; and 2) Program and Abstracts WORLDSymposium 2019* 15th Annual Research Meeting – ScienceDirect
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)
WORLDSymposium 2018 | February 7, 2018
This was Poster Number LB-07 at WORLDSymposium 2018.
This poster presentation was part of the Foundation’s larger work to capture and share the perspective of caregivers for children with Sanfilippo Syndrome to help better inform the selection and development of clinical trial endpoints to reflect desired treatment benefits across the lifespan of the children.
The Natural History of Facial Features Observed in Sanfilippo Syndrome (MPS IIIB) Using a Next-Generation Phenotyping Tool
Where | When
Cure Sanfilippo Foundation collaborated with Face2Gene, a suite of digital resources for physicians from FDNA, to populate its Clinic app that uses facial recognition technology to assist in accurately and timely diagnoses of Sanfilippo Syndrome.
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
Cure Sanfilippo Foundation collaborated with Face2Gene, a suite of digital resources for physicians from FDNA, to populate its Clinic app that uses facial recognition technology to assist in accurately and timely diagnoses of Sanfilippo Syndrome.
Publication of Foundation-led Research
These are publication of Sanfilippo research and/or projects led by Cure Sanfilippo Foundation.
“Sanfilippo syndrome: consensus guidelines for clinical care”
Orphanet Journal of Rare Diseases | October 2022
“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, strategic support from, or co-authored by Cure Sanfilippo Foundation.
“Metabolic rewiring and autophagy inhibition correct lysosomal storage disease in mucopolysaccharidosis IIIB”
Melania Scarcella, Gianluca Scerra, Mariangela Ciampa, Marianna Caterino, Michele Costanzo, Laura Rinaldi, Antonio Feliciello, Serenella Anzilotti, Chiara Fiorentino, Maurizio Renna, Margherita Ruoppolo, Luigi Michele Pavone, Massimo D’Agostino, and Valeria De Pasquale | iScience | 2024
“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.