RESEARCH NEWS

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

Research News

Stem cell transplantation in a mouse model of Sanfilippo typ...

Researchers in Canada and the USA have investigated the effects of stem cell transplantation in a Sa...
Friday, 21st Jun 24
Research News

Loss of brain ‘white matter’ in Sanfilippo

Loss of brain ‘white matter’ in Sanfilippo Researchers from Canada and the USA have studied h...
Friday, 3rd May 24
Research News

Connecting with the global MPS community

Connecting with the global MPS community In April 2024, MPS researchers, clinicians, patients, fa...
Monday, 15th Apr 24
Research News

Fruit flies shed light on ultra-rare Sanfilippo syndrome typ...

Fruit flies shed light on ultra-rare Sanfilippo syndrome type C A team of South Australian resear...
Tuesday, 2nd Apr 24
Research News

Four new projects for Sanfilippo syndrome research commence ...

Four new projects for Sanfilippo syndrome research commence in 2024 We are delighted to announce ...
Tuesday, 26th Mar 24
Research News

Profile a Sanfilippo Researcher: Ella McDonald

Meet Ella McDonald, a PhD Candidate at Flinders University in Adelaide and the recipient of a Sanfil...
Tuesday, 12th Mar 24
Research News

WORLDSymposium 2024 updates

The annual international Lysosomal Storage Diseases conference, WORLDSymposium 2024, was held in San...
Tuesday, 5th Mar 24
Research News

A new global alliance for Sanfilippo syndrome

We are pleased to announce the formation of the International Sanfilippo Syndrome Alliance (ISSA), a...
Monday, 5th Feb 24
Research News

Profile a Sanfilippo Researcher: Ewan Gerken

Meet Ewan Gerken, a PhD Candidate at The University of Adelaide. Ewan uses zebrafish models of Sanfi...
Thursday, 16th Nov 23
Research News

Inaugural Australian Lysosomal Disease Summit

The Sanfilippo Children’s Foundation team were delighted to be a part of the inaugural Lysosomal D...
Tuesday, 7th Nov 23
Research News

Insights into the economic impact of Sanfilippo syndrome

Sanfilippo syndrome is a rare and fatal disease with no current treatment or cure. It not only affec...
Tuesday, 10th Oct 23
Research News

Diverting heparan sulfate breakdown to help treat Sanfilippo

Heparan sulfate (HS) is vital in the body. It is important for cells to communicate with other cells...
Monday, 18th Sep 23
Research News

Biomarkers for Sanfilippo

Being able to easily and accurately confirm a diagnosis and predict and monitor an individual’s di...
Monday, 21st Aug 23
Research News

Managing behavioural symptoms in Sanfilippo syndrome

Managing behavioural symptoms in Sanfilippo syndrome In Sanfilippo, the build-up of waste product...
Monday, 10th Jul 23
Research News

Cutting up antibodies may help improve access to gene therap...

In the fight against Sanfilippo syndrome and other similar genetic conditions, one of the most promi...
Tuesday, 27th Jun 23
Research News

2023 Solving Sanfilippo Symposium - the power of a gathering

You cannot underestimate the power of bringing people together! The 2023 Solving Sanfilippo Sympo...
Thursday, 8th Jun 23
Research News

Dr Emma Parkinson-Lawrence

Meet Dr Emma Parkinson-Lawrence, a researcher at the University of South Australia who works on Sanf...
Tuesday, 4th Apr 23
Research News

Investigating vision loss in Sanfilippo type C mice

A recently published study has investigated the effects of Sanfilippo on the retina—a layer of cel...
Friday, 31st Mar 23
Research News

Sanfilippo syndrome Brain in a Dish project to continue with...

We are thrilled to announce that the Sanfilippo Brain in a Dish research team have been awarded a $7...
Wednesday, 15th Mar 23
Research News

WORLDsymposium 2023 updates

The annual international Lysosomal Storage Diseases conference, WORLDSymposium 2023, was held in Orl...
Thursday, 9th Mar 23
Research News

Overcoming the blood-brain barrier: therapy delivery for San...

Severe neurodegeneration that starts in childhood is a defining feature of Sanfilippo syndrome. To t...
Wednesday, 8th Feb 23
Research News

Gene-corrected neural stem cells show promise in Sanfilippo ...

US researchers have used a combined stem cell and gene therapy approach in a mouse model of Sanfilip...
Monday, 30th Jan 23
Research News

Can resveratrol activate autophagy in Sanfilippo?

Researchers at the University of Gdansk in Poland have studied naturally occurring molecules that ac...
Wednesday, 11th Jan 23
Research News

The Year in Review: a year of progress and achievements

As 2022 draws to a close we take a look at the year’s highlights and look forward to what next yea...
Thursday, 29th Dec 22
Research News

Congratulations, Professor Ian Alexander!

Congratulations to Professor Ian Alexander, the 2022 recipient of Research Australia’s prestigious...
Friday, 9th Dec 22
Research News

Profile a Sanfilippo Researcher: A/Prof. Jan Kaslin

Meet A/Prof Jan Kaslin, a researcher at the Australian Regenerative Medicine Institute, Monash Unive...
Tuesday, 6th Dec 22
Research News

Towards an enzyme replacement therapy for Sanfilippo type B ...

Biotechnology company Allievex Corporation has released early data from their phase 1/2 clinical tri...
Tuesday, 29th Nov 22
Research News

The first-ever global consensus clinical care guidelines for...

For decades, clinicians and families have lacked clear guidance in making decisions about the timing...
Saturday, 29th Oct 22
Research News

New research describes potential cause of wasting and energy...

Researchers from the USA have investigated metabolism and energy balance in a Sanfilippo type A mous...
Wednesday, 26th Oct 22
Research News

High GAG levels impact the cell cycle in Sanfilippo and rela...

A research study by Professor Grzegorz Węgrzyn and his team from the University of Gdansk, Poland, ...
Thursday, 20th Oct 22
Research News

Natural History Study sheds light on Sanfilippo syndrome typ...

In preparation for the ongoing clinical trial of their enzyme replacement therapy for children with ...
Monday, 17th Oct 22
Research News

State of play: Development of therapies targeting autophagy ...

Therapies targeting autophagy are a potential therapeutic avenue under development for Sanfilippo. ...
Thursday, 29th Sep 22
Research News

Testing optimised gene therapy for Sanfilippo type B

Newly-published research, led by Professor Coy Heldermon at the University of Florida, and partly fu...
Monday, 12th Sep 22
Research News

The effects of high heparan sulfate levels in the lung in Sa...

A recently-published study, led by a team in France, has looked at how elevated HS in disorders like...
Tuesday, 23rd Aug 22
Research News

Prof Kim Hemsley and Dr Adeline Lau: Celebrating 20 years wo...

Twenty years ago, Kim Hemsley and Adeline Lau began their work at the Women’s and Children’s Hos...
Wednesday, 17th Aug 22
Research News

SOBI Sanfilippo type A enzyme replacement trial results publ...

Results from a clinical trial to evaluate the safety and effectiveness of SOBI003, a modified sulfam...
Thursday, 4th Aug 22
Research News

Chaperone therapy shows promise in Sanfilippo type C mouse m...

In work partly funded by Sanfilippo Children’s Foundation, a team of researchers, led by Professor...
Monday, 18th Jul 22
Research News

From misdiagnosis to early diagnosis: can we rewrite the sto...

Improving early diagnosis would remove the long, distressing diagnostic odyssey for families. It wou...
Monday, 27th Jun 22
Research News

State of play: Development of therapies targeting neuroinfla...

Neuroinflammation is inflammation that affects the brain or spinal cord. Researchers looking at Sanf...
Wednesday, 8th Jun 22
Research News

The importance of caregivers’ perspectives when evaluating...

A recent study has collected data from caregivers of patients with Sanfilippo to support clinical ou...
Tuesday, 17th May 22
Research News

Clinical trial updates from WORLDSymposium

The annual international Lysosomal Storage Diseases conference WORLDSymposium was held in San Diego ...
Wednesday, 20th Apr 22
Research News

A study of Fluoxetine in mice with Sanfilippo type A

Researchers from TIGEM, Federico II University, and IBBC in Italy, have studied a molecule called Fl...
Wednesday, 30th Mar 22
Research News

Brain in a Dish - project update

The Brain in a Dish research project began in July 2019 with the support of a $2 million grant from ...
Monday, 14th Mar 22
Research News

Exploring gene activity to understand symptoms and severity ...

Researchers have sought to get a better understanding of the biology that lies behind the variation ...
Monday, 7th Mar 22
Research News

The impacts of COVID-19-related distance learning on childre...

The COVID-19 pandemic has affected children’s education, with many classrooms moved online and tea...
Wednesday, 23rd Feb 22
Research News

Prestigious Dementia Australia Fellowship for young Sanfilip...

In what is a fantastic outcome, both for a talented young researcher and for Sanfilippo syndrome res...
Wednesday, 16th Feb 22
Research News

Proudly launching the Global Roadmap For Sanfilippo Syndrome...

Sanfilippo Children’s Foundation (Australia), Cure Sanfilippo Foundation (USA) and our sister orga...
Wednesday, 9th Feb 22
Research News

New type A ERT candidate on track for clinical trial

Japanese company, JCR Pharmaceuticals, has received an orphan drug designation from the European Com...
Tuesday, 1st Feb 22
Research News

New mouse model helps researchers see into the Sanfilippo ty...

Recently, researchers in the USA, in collaboration with biotech company Phoenix Nest Inc, developed ...
Friday, 21st Jan 22
Research News

Supporting patients with Sanfilippo using music

A study led by researchers at the University of Deusto in Spain has described three patients with Sa...
Wednesday, 5th Jan 22
Research News

Profile a Sanfilippo Researcher: Dr. Elvira De Leonibus

We are very grateful to all the researchers around the world working tirelessly to solve Sanfilippo....
Wednesday, 8th Dec 21
Research News

USA team awarded funding to study ultra-rare Sanfilippo type...

USA-based biotech company, Phoenix Nest Biotech, has been awarded a US$3.4 million grant from the US...
Wednesday, 1st Dec 21
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

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