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OUR FUNDED PROJECTS

Active projects

Evaluation of disease-modifying drugs for attenuated forms of Sanfilippo

  • Project title:Swift in vitro evaluation of disease-modifying drugs for attenuated forms of Sanfilippo

  • Chief investigator: Professor Kim Hemsley

  • Amount: AU$60,750 from Sanfilippo Children’s Foundation and AU$60,750 from Cure Sanfilippo Foundation

  • Duration: 1 year

  • Location: Flinders University

  • Status: Active

  • Start date: February 2024

*Type A attenuated will be studied in this project, but findings may be applied to all types of Sanfilippo including attenuated forms of other subtypes

Read more about Prof Kim Hemsley's research here

Comparing familial Alzheimer’s disease and Sanfilippo syndrome childhood dementia at single-cell resolution

  • Project title: Single nuclei RNA-seq to compare the effects of mutations implicated in familial Alzheimer’s disease and Sanfilippo syndrome childhood dementia

  • Chief investigator: Dr Karissa Barthelson

  • Amount: $19,300 from Sanfilippo Children’s Foundation, $40,000 from Brain Foundation and $30,000 from Carthew Family Trust

  • Duration: 1 year

  • Location: Flinders University

  • Status: Active

  • Start date: January 2024

*Type B will be studied in this project, but findings may be applied to all types of Sanfilippo

Read more about Dr Barthelson's research here

Repurposing a drug for recurrent lung infections in a Sanfilippo type A mouse model

  • Project title: Repurposing immunomodulatory drugs for the treatment of recurrent lung infections in a pathogen challenged Sanfilippo type A mouse lung model

  • Chief investigator: Dr Emma Parkinson-Lawrence

  • Amount: $45,440 from Sanfilippo Children’s Foundation and $45,440 from Sanfilippo Fighters (Italy)

  • Duration: 1 years

  • Location: University of South Australia

  • Status: Active

  • Start date: February 2024

*Type A will be studied in this project, but findings may be applied to all types of Sanfilippo

Read more about Dr Emma Parkinson-Lawrence's research here

Combination of stem cell transplantation and cathepsin B inhibitors for the treatment of Sanfilippo disease

  • Project title: Combination of HSCP transplantation and cathepsin B inhibitors for treatment of Sanfilippo disease

  • Chief investigators: Professor Alexey Pshezhetsky

  • Amount: AUD 106,000 from Sanfilippo Children’s Foundation and AUD 106,000 from Cure Sanfilippo Foundation (USA)

  • Duration: 2 years

  • Location: Centre Hospitalier Universitaire Sainte-Justine, University of Montreal

  • Status: Active

  • Start date: April 2024

    Read more about Professor. Pshezhetsky research here

    PhD Scholarship - Flinders University

    • Project title: Pre-clinical iPSC-neuron screen of repurposed drugs for children with a form of dementia

    • Chief investigators: Ella McDonald (Flinders University), supervised by Assoc. Prof. Cedric Bardy (Flinders University and South Australian Health and Medical Research Institute (SAHMRI))

    • Amount: $15,000

    • Duration: 3 years

    • Location: Adelaide, Australia

    • Status: Active

    • Start date: April 2023

    * Type A will be studied in this project, but findings may be applied to all types of Sanfilippo

    Read more about this PhD project here

    PhD Scholarship - University of Adelaide

    • Project title: Molecular and bioinformatic studies of Alzheimer's and MPS III disease-linked genes in Zebrafish

    • Chief investigators: Ewan Gerken, The University of Adelaide, supervised by Assoc. Prof. Michael Lardelli (The University of Adelaide)

    • Amount: $5,000

    • Duration: 1 year

    • Location: Adelaide, Australia

    • Status: Active

    • Start date: 2023

    Read more about this PhD project here

    Development of iminosugar-based pharmacological chaperones for Sanfilippo type B

    • Project title: Development of iminosugar-based pharmacological chaperones for MPS III

    • Chief investigators: Professor Yves Bleriot

    • Amount: $45,600 from Sanfilippo Children’s Foundation and $25,000 from Fundacja Sanfilippo, Poland

    • Duration: 1 year

    • Location: University of Poitiers, France

    • Status: Active

    • Start date: January 2023

    Read more about Prof. Yves Bleriot's research here

    Boosting lysosomal function and targeting neuroinflammation using a small compound for the treatment of Sanfilippo syndrome

    • Project title: Boosting lysosomal function and targeting neuroinflammation using a small compound for the treatment of Sanfilippo syndrome

    • Chief investigators: Dr. Johannes Schlachetzki

    • Amount: $50,000 from Sanfilippo Children’s Foundation and $50,000 from Fondation Sanfilippo Suisse

    • Duration: 1 year

    • Location: University of California San Diego

    • Status: Active

    • Start date: January 2023

    * Type A will be studied in this project, but findings may be applied to all types of Sanfilippo

    Read more about Dr. Schlachetzki's research here

    Generation of a novel preclinical animal model of Sanfilippo syndrome

    • Project title: Generation of a novel preclinical animal model of Sanfilippo syndrome

    • Chief investigator: Professor Kim Hemsley

    • Amount: $50,000 from Sanfilippo Children’s Foundation and $50,000 from Fondation Sanfilippo Suisse

    • Duration: 1.5 years

    • Location: Flinders University

    • Status: Active

    • Start date: December 2022

    Read more about Professor Hemsley's research here

    Screening of potential therapeutics affecting lysosomal acidification in a fruit fly model of Sanfilippo

    • Project title: A Drosophila MPS III mutation model for screening of potential therapeutics affecting lysosomal acidification

    • Chief investigator: Associate Professor Michael Lardelli

    • Amount: $20,000, including 6,000 € from the H.A.N.D.S. consortium (Associação Sanfilippo Portugal, Sanfilippo Barcelona, Sanfilippo Sud)

    • Duration: 1.5 years

    • Location: The University of Adelaide

    • Status: Active

    • Start date: February 2023

    * Types A or B will be studied in this project, but findings may be applied to all types of Sanfilippo

    Read more about Associate Professor Lardelli's research here

    Discovery and validation of translational biomarkers for Sanfilippo

    • Project title: Discovery and validation of translational biomarkers for Sanfilippo childhood dementia

    • Chief investigators: A/Prof. Jan Kaslin with Dr Nicholas Smith, Dr Louise O’Keefe & Prof. Kim Hemsley

    • Amount: $157,850 from Sanfilippo Children’s Foundation (with support from Perpetual Trustees), $207,000 from Cure Sanfilippo Foundation (USA), and $50,000 from Fundacja Sanfilippo (Poland)

    • Duration: 3 years

    • Location: Monash University, The University of Adelaide and The Women’s and Children’s Hospital, Adelaide

    • Status: Active

    • Start date: July 2022

      * Type A will be studied in this project, but findings may be applied to all types of Sanfilippo

    Read more about A/Prof. Jan Kaslin's research here

    Therapeutic inhibition of a key inflammation pathway

    • Project title: Therapeutic inhibition of a key inflammation pathway

    • Chief investigators: Dr Nicholas Smith 

    • Amount: $115,000

    • Duration: 2 years (extension granted)

    • Location: The University of Adelaide, Flinders University, the Garvan Institute of Medical Research 

    • Status: Active

    • Start date: August 2021

     

      * Type A will be studied in this project, but findings could be applied to all types of Sanfilippo

      Read more about Dr. Smith's research here

      Further investigating the "molecular tweezer” CLR01 in the treatment of Sanfilippo Syndrome

      • Project title: Strengthening the rationale for the use of the "molecular tweezer” CLR01 in the treatment of Sanfilippo syndrome

      • Chief investigators: Assoc. Prof. Alessandro Fraldi

      • Amount: AU$579,200 total, with Cure Sanfilippo Foundation contributing US$225,000 and the H.A.N.D.S. consortium contributing €10,000

      • Duration: 2 years

      • Location: CEINGE - Advanced Biotechnology, Naples, Italy

      • Status: Active

      • Start date: March 2021

      Read more about Associate Professor. Fraldi's research here

      A No Nonsense Approach to Sanfilippo Syndrome

      • Project title: A No Nonsense Approach to Sanfilippo Disease

      • Chief investigators: Dr. Lachlan Jolly

      • Amount: $45,000 with Fondation Sanfilippo Suisse contributing a further $45,000

      • Duration: 2 years (extension granted)

      • Location: The University of Adelaide

      • Status: Active 

      • Start date: January 2021

       

      * Type A will be studied in this project, but findings could be applied to all types of Sanfilippo

      Read more about Dr. Jolly's research here

      Development of nanoparticle drug delivery for Sanfilippo

      • Project title: Genetic Substrate Reduction Therapy (SRT) for MPS III: Toward a siRNA-containing nanoparticle targeted to brain cells

      • Chief investigator: Dr. Maria Francisca Coutinho

      • Amount: $25,000

      • Duration: 2 years (extension granted)

      • Location: National Institute of Health Dr. Ricardo Jorge (INSA), Portugal

      • Status: Active 

      • Start date: January 2020

      Read more about Dr. Coutinho's research here

       

      Investigating the effects of Sanfilippo on the lungs 

      • Project title: Investigating the effects of Sanfilippo on the lungs informing clinical treatment for Sanfilippo patients

      • Chief investigators: Prof. Sandra Orgeig and Dr. Emma Parkinson-Lawrence

      • Amount: $33,000

      • Duration: 3 years (extension granted)

      • Location: University of South Australia 

      • Status: Active 

      • Start date: April 2020

      * Sanfilippo Type A will be studied in this project, but the findings could be applied to all types of Sanfilippo.

      Read more about Prof Orgeig and Dr. Parkinson-Lawrence's research here

       

      Brain in a Dish Project: Development of cell models to search for new Sanfilippo treatments

      • Project title: Development of cell models to be used in the search for treatments for Sanfilippo Syndrome

      • Chief investigators: Assoc. Prof. Kim Hemsley & Dr. Nicholas Smith, with Associate Professor Cedric Bardy & Professor Mark Hutchinson

      • Amount: $2.5 million

      • Duration: 4 years

      • Location: South Australian Health & Medical Research Institute (SAHMRI), Women's and Children's Hospital, Adelaide, The University of Adelaide & Flinders University

      • Status: Active

      • Start date: July 2019

      *Sanfilippo Type A will be studied in this project but the findings could be applied to all types of Sanfilippo

      Read more about this major drug screening project here

      Abeona Therapeutics Gene Therapy Program

      • Project title: ABO-102 Gene Therapy for Patients with Sanfilippo Syndrome Type A (MPS IIIA)

      • Chief investigator: Abeona Therapeutics (Continued by Ultragenyx from 2022)
      • Amount: AUD$450,000

      • Status: Active (clinical trial recruiting and treating patients in USA, Spain and Australia)


      Read more about this clinical trial here

      Completed projects

      Insight into the role of heparan sulfate and dopamine as disease modifiers in Mucopolysaccharidosis type IIIA

      • Project title: Insight into the role of heparan sulfate and dopamine as disease modifiers in Mucopolysaccharidosis type IIIA

      • Chief investigators: Dr Elvira De Leonibus

      • Amount: $250,000, with the Sanfilippo Children’s Foundation contributing $50,000, Cure Sanfilippo Foundation (USA) contributing $125,000 and Sanfilippo Fighters (Italy) contributing $75,000

      • Duration: 2 years

      • Location: Telethon Institute of Genetics and Medicine (TIGEM), Italy

      • Status: Completed

      • Start date: July 2021

      Read more about Dr De Leonibus' research here

      Targeting Purinergic Signalling in the Brain to Reduce Inflammation in Sanfilippo

      • Project title: Targeting Purinergic Signalling in the Brain to Reduce Inflammation in Sanfilippo

      • Chief investigators: Assoc. Prof. Kim Hemsley, Dr Louise O’Keefe, A/Prof Vito Ferro

      • Amount: $89,820

      • Duration: 2 years (extension granted)

      • Location: Flinders University, University of Adelaide and University of Queensland

      • Status: Completed

      • Start date: March 2021

        •  

        • * Sanfilippo Types A and C will be studied in this project, but the findings could be applied to all types of Sanfilippo.

           

        Read more about Assoc. Prof. Hemsley's research here

        Development and Testing of Sanfilippo Types A, B and C Zebrafish

        • Project title: Intra-family analysis of behaviour and brain transcriptomes of MPS IIIA, B, & C model zebrafish

        • Chief investigators: Assoc. Prof. Michael Lardelli

        • Amount: $90,000

        • Duration: 1 year

        • Location: The University of Adelaide

        • Status: Completed

        • Start date: January 2021

        Read more about Assoc. Prof. Lardelli's research here

        PhD Scholarship - Flinders University

        • Project title: Identification and validation of non-invasively-sourced biomarkers of central nervous system disease in childhood-onset dementia (Sanfilippo syndrome)

        • Chief investigator: Leanne Winner’s PhD project will be carried out at Flinders University, under the guidance of Assoc. Prof. Kim Hemsley and Dr. Mary-Louise Rogers (Flinders University) and Dr. Marten Snel (SAHMRI).

        • Amount: $15,000 over 3 years

        • Location: Adelaide, Australia.

        • Status: Completed

        *Sanfilippo Type A will be studied in this project but the findings could be applied to all types of Sanfilippo

        Read more about Leanne's PhD project here

        Investigating potential stem cell therapy for Sanfilippo Type B

        • Project title: Neural and Mesenchymal stem cell mediated gene therapy for MPS IIIB

        • Chief investigator: Dr. Coy Heldermon

        • Amount: $90,000 (over 1 year)

        • Location: University of Florida, USA

        • Status: Completed

        • Start Date: March 2017


        Read more about Dr. Heldermon's research here

        Evaluation of SRT candidates for six Mucopolysaccharidoses

        • Project title: Identify a novel class of substrate reduction therapy drugs for the mucopolysaccharidoses that inhibit N-deacetylase/N-sulfo-transferase (NDST)

        • Chief investigators: Prof. Andreas Schulze

        • Amount: $62,581, with Cure Sanfilippo Foundation contributing a further $62,581 

        • Duration: 1 year

        • Location: The Hospital for Sick Children, Toronto

        • Status: Completed

        • Start date: December 2020

          •  

            * While Sanfilippo types A, B and C subtypes will be studied in this project, results can be applied to all subtypes of Sanfilippo, and to other MPS disorders.

          Read more about Professor. Schulze's research here

          Investigating the role of neuraminidase 1 in Sanfilippo

          • Project title: Secondary deficiency of neuraminidase 1 in neurological mucopolysaccharidoses: mechanism and pathological implications

          • Chief investigator: Prof. Alexey Pshezhetsky; collaborators: Prof. Domenico Garozzo (Italy) and Prof. Herbert Hildebrandt (Germany)

          • Amount: $27,500 from Sanfilippo Children’s Foundation, $18,750 from Fundacja Sanfilippo (Poland), $18,750 from Sanfilippo Initiative (Germany), and $10,000 from the H.A.N.D.S. consortium (Associação Sanfilippo Portugal, Sanfilippo Barcelona, Sanfilippo Sud)

          • Duration: 1 year

          • Location: CHU Sainte-Justine, University of Montreal

          • Status: Completed

          • Start date: May 2022

            * Type C will be studied in this project, but findings may be applied to all types of Sanfilippo

          Read more about Prof. Alexey Pshezhetsky's research here

          Targeting the immune system as a treatment approach 

          • Project title: Targeting the immune system as a treament approach for Sanfilippo

          • Chief investigators: Associate Professor Kim Hemsley and Dr. Marten Snel

          • Amount: $355,000

          • Duration: 3 years (extension granted)

          • Location: Flinders University and the South Australian Heath and Medical Research Institute (SAHMRI)

          • Status: Completed

          • Start date: July 2020

          * Sanfilippo Type A will be studied in this project, but some of the findings could be applied to all types of Sanfilippo.

          Read more about Assoc. Prof. Hemsley & Dr. Snel's research here

          PhD Scholarship - University of Adelaide

          • Project title: Are there any long-term effects of being a Sanfilippo carrier?

          • Chief investigator: Nazzmer Nazri, University of Adelaide PhD projecct under the guidance of Assoc. Prof Kim Hemsley (Flinders University) and Dr. Nicholas Smith (Women's and Children's Hospital, Adelaide).

          • Amount: $10,000 over 2 years

          • Location: Adelaide, Australia.

          • Status: Completed

          • Start date: 2019

          *Sanfilippo Type A will be studied in this project but the findings could be applied to all types of Sanfilippo

          Read more about this PhD project here

          Targeting Autophagy in Sanfilippo Syndrome 

          • Project title: Targeting Autophagy in Sanfilippo Syndrome

          • Chief investigator: Dr. Louise O'Keefe

          • Amount: $46,000 with Fondation Sanfilippo Suisse contributing a further $46,000

          • Duration: 2 years (extension granted)

          • Location: The University of Adelaide

          • Status: Completed

          • Start date: February 2020

          * Sanfilippo Type A and C will be studied in this project, but the findings could be applied to all types of Sanfilippo.

          Read more about Dr. O'Keefe's research here

           

          Global Clinical Guidelines Project

          • Project Title: Sanfilippo Syndrome (MPS III) Global Clinical Management Guidelines

          • Chief Investigators: Sanfilippo Children's Foundation & Cure Sanfilippo Foundation

          • Location: Global 

          • Start Date: 2022

          • Status: Completed


          Read more about global clinical guidelines here

          PhD Scholarship - University of Adelaide

          • Project title: Investigating the molecular mechanisms that mediate neuropathology in Sanfilippo Syndrome

          • Chief Investigator: Laura Hewson’s PhD project will be carried out under the guidance of Dr Lousie O’Keefe at the University of Adelaide. Laura is co-supervised by Dr. Kim Hemsley (SAHMRI) and Prof Robert Richards (University of Adelaide)

          • Amount: $10,000 over 2 years

          • Status: Completed


          Read more about Laura Hewson's research here

          Targeting misfolded proteins for therapy for Sanfilippo Type C



          • Project title: Targeting Misfolded Proteins for Therapy of MPSIIIC

          • Chief investigator: Professor Alexey Pshezhetsky

          • Amount: $98,000

          • Duration: 1 year

          • Location: Montreal, Canada

          • Status: Completed

          • Start date: February 2018


          Read more about Prof. Alexey Pshezhetsky's research here

          Searching for "super active" enzymes for Sanfilippo Type A



          • Project title: Generation of “super active” variants of lysosomal enzymes to treat the CNS in Sanfilippo Syndrome

          • Chief investigator: Dr. Alessandro Fraldi

          • Amount: $90,000

          • Duration: 1 year

          • Location: Telethon Institute of Genetics and Medicine (TIGEM), Italy

          • Status: Completed

          • Start date: March 2019


          Read more about Dr. Fraldi's research here

          Development of Pharmacological Chaperones for Sanfilippo type B

          • Project title: Development of Pharmacological Chaperones for MPS IIIB

          • Chief investigators: Assoc. Prof. Vito Ferro

          • Amount: $45,000, with Fundacja Sanfilippo (Poland) and Sanfilippo Initiative (Germany) each contributing a further $22,500

          • Duration: 1 year

          • Location: The University of Queensland

          • Status: Completed

          • Start date: February 2021

           

          Read more about Associate Professor. Ferro's research here

          Therapeutic strategies for the treatment of behavioural symptoms

           

          • Project title: New Therapeutic strategies for the treatment of behavioural symptoms in Sanfilippo

          • Chief investigator: Dr. Elvira De Leonibus

          • Amount: $45,000 with Cure Sanfilippo Foundation contributing a further $45,000

          • Duration: 1 year

          • Location: Telethon Institute of Genetics and Medicine (TIGEM), Italy

          • Status: Completed

          • Start date: March 2019

          *Sanfilippo Type A will be studied in this project but the findings could be applied to all types of Sanfilippo

          Read more about Dr. Leonibus' research here

          Targeting autophagy as a therapeutic strategy for Sanfilippo



          • Project title: Pharmacological induction of autophagy as a novel therapeutic strategy for MPS III A

          • Chief investigators: Dr. Ivan Conte & Dr. Nicolina Cristina Sorrentino

          • Amount: $90,000

          • Duration: 1 year

          • Location: Telethon Institute of Genetics and Medicine (TIGEM), Italy

          • Status: Completed 

          • Start date: March 2019


          *          Sanfilippo Type A will be studied in this project but the findings could be applied to all types of Sanfilippo

          Read more about Dr. Conte and Dr. Sorrentino's research here

          Creating a zebrafish model for Sanfilippo Type A



          • Project title: Creating a MPSIII zebrafish model and brain specific in vivo lysosome reporter for drug screening and in vivo imaging of disease pathology

          • Chief investigator: Dr. Jan Kaslin

          • Amount: $45,000 (over 1 year), with Cure Sanfilippo Foundation contributing a further $45,000

          • Duration: 1 year

          • Location: Monash University, Victoria, Australia

          • Status: Completed

          • Start date: February 2018


          Read more about Dr. Kaslin's research here

          Designing "chaperone" drugs for Sanfilippo Type A



          • Project title: Pharmacological chaperones for MPSIIIA

          • Chief investigator: Assoc. Prof. Vito Ferro

          • Amount: $90,000

          • Duration: 1 year

          • Location: University of Queensland, Queensland Australia

          • Status: Complete (new project funded to continue this promising research)

          • Start date: February 2018


          Read more about Prof. Vito Ferro's research here

          PhD Scholarship - SAHMRI



          • Project title: How are the neurons damaged in Sanfilippo and how can it be prevented?

          • Chief investigator: Andrew Shoubridge, University of Adelaide PhD project will be carried out under the guidance of Dr. Kim Hemsley in the Childhood Dementia Research Group, as part of the Hopwood Centre for Neurobiology at the South Australian Health and Medical Research Institute (SAHMRI)

          • Amount: $15,000 over 3 years

          • Status: Complete (read about the outcomes here)


          Read more about Andrew Shoubridge's research here

          Optimising gene therapy for Sanfilippo Syndrome Type B

          • Project title: Gene therapy with intracranial delivery of capsid-enhanced AAV NAGLU (MPS III B)

          • Chief investigator: Dr. Coy Heldermon

          • Amount: $90,000 (over 1 year)

          • Location: University of Florida, USA

          • Status: Completed (technology licenced to Lacerta Therapeutics)

          • Start Date: March 2017


          Read more about Dr. Heldermon's research here

          Improving delivery of gene therapy to brain for Sanfilippo Type C

          • Project title: Improving brain delivery of adeno-associated gene therapy vectors for the treatment of MPS IIIC and other neurodegenerative diseases

          • Chief Investigator: Dr. Brian Bigger

          • Amount: $90,000 (over 1 year)

          • Location: University of Manchester, UK

          • Status: Completed (technology licenced to Phoenix Nest)

          • Start Date: March 2017


          Read more about Dr. Bigger's research project here

          High throughput screening for new drugs to treat Sanfilippo

          • Project title: New therapy for six Mucopolysaccharidoses

          • Chief investigator: Associate Professor Dr Andreas Schulze

          • Amount: $448,000 (over 2 years)

          • Location: Hospital for Sick Children, Toronto, Canada

          • Status: Complete (extension granted to test drug candidates)

          • Start Date: March 2017


          Read more about Assoc. Prof. Dr. Andreas Schulze's research here

          Investigating the role of brain lipids (fats) in Sanfilippo 

          • Project title: Brain lipid homeostasis: A critical event in Sanfilippo A neuropathology

          • Chief investigator: Associate Professor Maria Fuller

          • Amount: $90,900 (1 year)

          • Duration: 1 year

          • Location: SA Pathology, Adelaide

          • Status: Complete (read the publication here) 

          • Start Date:  Jan 2017

           

          Read more about Assoc. Prof. Maria Fuller's research here 

           

          Evaluating potential drug therapies for Sanfilippo 

          • Project title: Small molecule drug therapy for MPS IIIA

          • Chief investigator: Dr Adeline Lau, Prof Kim Hemsley and Prof Vito Ferro

          • Amount: $241,500 with Fondation Sanfilippo Swisse contributing a further $241,500.

          • Duration: 2.5 years (extension granted)

          • Location: Flinders University and University of QLD

          • Status: Complete 

          • Start Date:  May 2020

          * Sanfilippo Type A will be studied in this project, but some of the findings could be applied to all types of Sanfilippo.

          Read more about Dr. Lau's research here

           

           

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