OUR FUNDED PROJECTS

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

 

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

 

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

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

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

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: Active 

  • 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: 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. 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: Completed 

  • 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

Abeona Phase 1B trial of Gene Therapy program



  • Project title: Phase 1B trial of gene therapy (ABO-101 & ABO-102)

  • Chief investigator: Abeona Therapeutics

  • Amount: USD $1.5 million

  • Status: Active


Read more about Abeona Therapeutics Phase 1B clinical trial 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: Active


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: Active (extension granted)

  • 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

  • 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: Active

  • 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: Active 

 

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 USD $1 million

  • Status: Active


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