OUR FUNDED PROJECTS

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: 1 year

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

  • Status: Active

  • Start date: March 2021

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    • * 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

    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: 1 year

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

    • Status: Active

    • Start date: May 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

      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: Active

      • Start date: December 2020

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          * 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

        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

        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: Active

        • Start date: February 2021

         

        Read more about Associate Professor. Ferro'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: 1 year

        • 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 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: Active 

        • Start date: January 2021

        Read more about Assoc. Prof. Lardelli'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: 2 years

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

        • 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

        Evaluating potential drug therapies for Sanfilippo

        • Project title: Small molecule drug therapy for MPS IIIA

        • Chief investigator: Dr. Adeline Lau

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

        • Duration: 2 years

        • Location: Flinders University and University of Queensland
        • Status: Active 

        • 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

        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: 1 year

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

        • Start date: January 2020

        Read more about Dr. Coutinho's research 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: 1 year

        • Location: The University of Adelaide
        • Status: Active 

        • 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

         

        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: Active

        • 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

        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: 1 year

        • 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

         

        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: Active

        • 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

        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: Active

        *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

        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

        • Amount: $2.5 million

        • Duration: 24 months

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

        • 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

        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

        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

        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: Active 

        • Start date: March 2019


        Read more about Dr. Fraldi'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

        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: Active (extension granted)

        • Start date: February 2018


        Read more about Prof. Alexey Pshezhetsky'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

        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: Active


        Read more about Laura Hewson'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

        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: Active (extension granted)

        • 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 Fullero

        • Amount: $90,900 (1 year)

        • Duration: 1 year

        • Location: SA Pathology, Adelaide
        • Status: Complete (read the publication here

         

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

         

        Abeona Therapeutics Gene Therapy Program

        • Project title: ABO-102 Gene Therapy for Patients with Sanfilippo Syndrome Type A (MPS IIIA) and  ABO-101 Gene Therapy for Patients with Sanfilippo Type B (MPS IIIB)

        • Chief investigator: Abeona Therapeutics

        • Amount: AUD$450,000

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


        Read more about Abeona's clinical trial 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 
        • Status: Active

        • Start Date: 2017


        Read more about global clinical guidelines here