RESEARCH NEWS

Read the latest information about our research program and global research developments. 

Research News

Feeding and gut problems in Sanfilippo

While Sanfilippo Syndrome predominantly affects the brain, it also has an impact on many other body...
Friday, 26th Nov 21
Research News

A new Sanfilippo brain cell model provides clues on brain dy...

An Australian team of researchers has developed a human Sanfilippo type A neural cell model and used...
Thursday, 18th Nov 21
Research News

State of play: Development of enzyme replacement therapies f...

There are currently no approved treatment options for Sanfilippo. Several therapeutic avenues are be...
Tuesday, 9th Nov 21
Research News

Long-term data from a Type A Enzyme Replacement Therapy tria...

Pharmaceutical company Shire, subsequently acquired by Takeda in 2019, sponsored two ERT clinical tr...
Wednesday, 27th Oct 21
Research News

Profile a Sanfilippo Researcher: Dr. Maria Francisca Coutinh...

Meet Dr. Maria Francisca Coutinho, a researcher at the National Institute of Health Dr. Ricardo Jorg...
Friday, 15th Oct 21
Research News

State of play: Development of gene therapies for Sanfilippo

There are currently no approved treatment options for Sanfilippo. Several therapeutic avenues are be...
Thursday, 7th Oct 21
Research News

Type B gene therapy trial releases long-term follow-up resul...

Results from a 5.5-year follow-up study have been released for a completed Sanfilippo type B gene th...
Friday, 17th Sep 21
Research News

Lysosomal storage disorders - 1 in 5,000

Sanfilippo Syndrome belongs to a group of around 50 diseases collectively named lysosomal storage di...
Monday, 13th Sep 21
Research News

Coming at the heparan sulfate problem from the outside

New research has found that clearing the heparan sulfate outside of cells in Sanfilippo can reduce d...
Friday, 27th Aug 21
Research News

MPS2021 Conference Summary

MPS2021, the 16th International Symposium on mucopolysaccharidoses and related disorders, was held v...
Friday, 20th Aug 21
Research News

Profile of a Sanfilippo Researcher: A/Prof Vito Ferro

Meet Associate Professor Vito Ferro, a chemist at The University of Queensland.
Wednesday, 18th Aug 21
Research News

State of play: Development of substrate reduction therapies ...

There is no approved cure or therapy for Sanfilippo, but Substrate Reduction Therapy, or SRT, is one...
Friday, 13th Aug 21
Research News

State of play: Development of chaperone therapies for Sanfil...

There are currently no approved treatment options for Sanfilippo Syndrome, but several therapeutic a...
Thursday, 5th Aug 21
Research News

Research helps explain autism-like symptoms in Sanfilippo

Research published in the prestigious journal Nature Communications has helped reveal what causes so...
Wednesday, 21st Jul 21
Research News

Brain signalling in early-stage Sanfilippo: new insights fro...

A study led by Professor Alexey Pshezhetsky (University of Montreal) has investigated the role of sy...
Wednesday, 14th Jul 21
Research News

A Spotlight on Attenuated Sanfilippo

Research into attenuated forms of Sanfilippo Syndrome has been given a boost with recent funding to ...
Thursday, 8th Jul 21
Research News

Approaching Sanfilippo from the parent’s perspective

A study initiated by Cure Sanfilippo Foundation, USA, aimed to investigate the impact of Sanfilippo ...
Monday, 21st Jun 21
Research News

The world’s first zebrafish model of Sanfilippo: a game-ch...

Dr Jan Kaslin, from the Australian Regenerative Medicine Institute (ARMI), based at Monash Universit...
Tuesday, 15th Jun 21
Research News

Can measuring the brain help clinical trials for Sanfilippo?

Clinical trials for Sanfilippo syndrome rely on accurate & easy to measure biomarkers. Researchers...
Thursday, 3rd Jun 21
Research News

Clues to lung symptoms in Sanfilippo

Researchers from Australia, Spain and the UK have studied the effect of Sanfilippo Syndrome on the l...
Tuesday, 25th May 21
Research News

New research on Sanfilippo type B enzyme replacement therapy

Research led by Prof. Patricia Dickson, based at The Lundquist Institute and Washington University h...
Monday, 10th May 21
Research News

New research shows high rates of hip problems in Sanfilippo ...

While there is a significant focus on neurodegenerative symptoms, it is important to recognise that ...
Thursday, 22nd Apr 21
Research News

Research sheds light on brain health of Sanfilippo carriers

Associate Professor Kim Hemsley and her team of researchers from South Australia have published rese...
Monday, 22nd Mar 21
Research News

Research update from the 2021 WORLDSymposium

The annual WORLDSymposium was held virtually this year due to the COVID-19 pandemic, but nevertheles...
Thursday, 4th Mar 21
Research News

Encouraging results from ongoing gene therapy clinical trial...

Abeona Therapeutics presented encouraging results from their ongoing gene therapy clinical trial for...
Monday, 15th Feb 21
Research News

Hopes for a new Sanfilippo type A clinical trial

Researchers at The University of North Carolina have developed a second-generation gene therapy for ...
Monday, 15th Feb 21
Research News

Research spotlight: ERT development for Sanfilippo type D

Towards the end of 2020, American researchers published an enzyme replacement therapy proof-of-conce...
Monday, 1st Feb 21
Research News

Speaker opportunity at virtual NORD conference

SHARE YOUR SANFILIPPO STORY INTERNATIONALLY … The National Organization for Rare Disorders (NORD)...
Wednesday, 13th Jan 21
Research News

First study on Sanfilippo caregiver preferences published

Our colleagues at the USA-based Cure Sanfilippo Foundation have published the first study of the pre...
Wednesday, 23rd Dec 20
Research News

Sanfilippo retinal study findings

Is the eye a window to the brain in Sanfilippo? The findings of a National Health and Medical Resea...
Wednesday, 16th Dec 20
Research News

Orchard Therapeutics reports early results in Sanfilippo cli...

Orchard Therapeutics has reported results from the first Sanfilippo type A patient treated in their ...
Thursday, 10th Dec 20
Research News

Congratulations, Andrew Shoubridge!

Andrew Shoubridge, the first recipient of the Sanfilippo Children’s Foundation top-up scholarship...
Thursday, 10th Dec 20
Research News

3rd International Conference: Sanfilippo Syndrome & Related ...

Sanfilippo Children’s Foundation was proud to be a sponsor of the 3rd International Conference on ...
Thursday, 10th Dec 20
Research News

World Sanfilippo Awareness Day

November 16 is World Sanfilippo Awareness Day. Now in its second year, this international day aims t...
Thursday, 12th Nov 20
Research News

Sanfilippo clinical trial factsheets now available

The Foundation recently developed Sanfilippo clinical trial factsheets for families, which are avail...
Thursday, 8th Oct 20
Research News

Exciting Progress For Our Community

Exciting progress for our community and a new chapter for Meg Donnell and the Sanfilippo Children’...
Tuesday, 25th Aug 20
Research News

Introducing Dr. Jana Vukovic to our SAB

The Sanfilippo Children's Foundation is thrilled to be expanding our Scientific Advisory Board. Plea...
Wednesday, 22nd Jul 20
Research News

Targeting the immune systems as a treatment approach for San...

The Sanfilippo Children’s Foundation has awarded funds to Associate Professor Kim Hemsley (Flinder...
Wednesday, 8th Jul 20
Research News

New SAB member Assoc. Prof. Karin Borges

We're thrilled to announce another addition to our esteemed Scientific Advisory Board. Please join u...
Wednesday, 1st Jul 20
Research News

New SAB member Assoc. Professor Sarah Spencer

We're delighted to announce a new addition to our esteemed Scientific Advisory Board. Please join us...
Wednesday, 3rd Jun 20
Research News

Development of nanoparticle drug delivery for Sanfilippo

Dr. Maria Francisca Coutinho from Portugal’s National Institute of Health Dr. Ricardo Jorge (INSA)...
Thursday, 7th May 20
Research News

Orchard Therapeutics Update: First patient treated

Incredible news out of the UK with the announcement that the first Sanfilippo patient has been treat...
Wednesday, 29th Apr 20
Research News

PhD Student - Flinders University: Investigating biomarkers ...

The Sanfilippo Children’s Foundation is proud to be providing a supplementary scholarship to Leann...
Wednesday, 22nd Apr 20
Research News

COVID-19 Impact on Sanfilippo families and researchers

During this unprecedented time, we want to update you on how the COVID-19 situation is impacting chi...
Wednesday, 15th Apr 20
Research News

Digital Divides: Hacking the Human Genome (2SER All Things E...

LISTEN to this powerful 2SER All Things Equal podcast entitled 'Digital Divides: Hacking the Human G...
Thursday, 19th Mar 20
Research News

PhD Student Nazzmer Nazri

The Sanfilippo Children’s Foundation is proud to be providing a supplementary scholarship to Nazzm...
Monday, 9th Mar 20
Research News

Evaluating potential drug therapies for Sanfilippo

The Sanfilippo Children’s Foundation and Fondation Sanfilippo Suisse have awarded funds to Dr. Ade...
Monday, 9th Mar 20
Research News

Targeting Autophagy in Sanfilippo Syndrome

Louise O’Keefe from The University of Adelaide and the South Australian Health & Medical Research ...
Sunday, 8th Mar 20
Research News

Investigating the effects of Sanfilippo on the lungs

The Sanfilippo Children’s Foundation has awarded funds to Prof. Sandra Orgeig and Dr. Emma Parkins...
Monday, 2nd Mar 20
Research News

Rare disease in spotlight with National Strategic Action Pla...

The Hon Greg Hunt, Federal Minister for Health, has today announced $3.3 million to implement the fi...
Wednesday, 26th Feb 20