Dialog Box


Current Research Programs

Since it was first described by American physician Sylvester Sanfilippo in 1963, much research has gone into understanding the disease and investigating approaches for effective therapeutic treatments. 

Introduction   |   Gene Therapy   |   Stem Cell   |   Enzyme Replacement  |   Substrate Replacement



Since it was first described by American physician Sylvester Sanfilippo in 1963, much research has gone into understanding the disease and investigating approaches for effective therapeutic treatments.


In this section, we share information on current research programs with a focus on those in, or about to enter, clinical trials stage . For a description on the different types of potential therapies for Sanfillippo, please see our Therapeutic Avenues section.


Although there are currently no cure or effective treatment commercially available to Sanfilippo patients, recent years have seen a major break-through progression from pre-clinical research (animal testing) to clinical trials on human patients. There are currently many research programs around the world working on MPSIII with several in clinical trial stage. In addition, numerous behavioural studies have been undertaken to better understand the disease, its cause, onset and progression path.


Whilst timeframes for taking a therapeutical product from bench-to-bed (from the research bench to the bedside of the patient) can be significant, there has been an acceleration of these timeframes for Sanfilippo patients, largely due to the tireless efforts of patient families and patient groups.


Click here to view or download our global Research Program Map, a one-page summary timeline of all research programs.


Research Programs in Clinical Trial Stage

The section below provides information about research programs that are either in or about to enter human clinical trial stage (there are many other research groups across the world undertaking pre-clinical trial studies).


Gene Therapy:


Lysogene SAF-302 (France) / Sanfilippo Type A

Lysogene was founded by Karen Aiach, mother of a Sanfilippo Type A child in Paris, France. Lysogene is focused on finding treatments for rare genetic disorders affecting the Central Nervous System (CNS) using gene therapy technology. In 2013, Lysogene successfully completed a Phase I/II clinical trial for its gene therapy product SAF-301: four children affected by MPSIII A were administered a gene therapy product directly into the brain. The neuro-surgical procedure entails intra-cerebral administration of AAV (Adeno-Associated Viral) vector carrying a healthy copy of the SGSH gene.


The Phase I/II concluded with excellent safety results and promising indicators of efficacy. Since then, Lysogene has obtained orphan drug designation for its product from the FDA (Foods & Drug Administration) in the US and the European Medical Agency (EMA).  They have also secured major venture capital to fund further trial phases, a positive indicator that the treatment shows promise. The company is currently working towards its phase III clinical trial, currently planned to start in 2016, and to be conducted in multiple sites in Europe and the US. It is expected the trial will treat between 15 and 20 MPSIII A patients, and Lysogene plans to conduct in parallel a natural history study in selected sites in Europe.  They hope to commercialise their product by 2019-20 and are also looking at treatments for other rare diseases affecting the CNS.


Read more about Lysogene and their MPSIII A therapy program:



Institut Pasteur (France) / Sanfilippo Type B

The Pasteur Institute in France has recently completed treatment of 4 patients with Sanfilippo Type B as part of a phase I/II clinical trial for a gene therapy product. This trial involved an AAV10 vector delivered to the brain intracerebrally by a neuro-surgical procedure and is very similar in its approach to the Lysogene treatment, but focused on type B instead of A. 

Results are expected to be published later in 2015.


Read more about the Institut Pasteur program here.

Abeona Therapeutics & Nationwide Children's Hospital (USA) / Sanfilippo Types A and B

Abeona Therapeutics is a biotech formed specifically to develop two products; ABX-A and ABX-B, for the treatment of Sanfilippo subtypes A and B.  The program is building on successful pre-clinical studies conducted by Drs Fu (Type B) and McCarty (Type A) at the Nationwide Children's Hospital in Columbus, Ohio.


The program is the result of a unique collaboration between  patient groups, researchers at Nationwide Children’s Hospital in Ohio and Abeona. Initially funded by international patient groups, including the Sanfilippo Children's Foundation, Abeona recently merged with PlasmaTech Biopharmaceuticals, Inc. (May 2015), and as result has strengthened its position as a leader in the development of gene therapy treatments for MPSIII. The biotech is currently conducting a natural history study with MPSIII A and B patients to gather data necessary to the Phase I/ II clinical trial. Patients on the clinical trial will be administered the gene therapy product intravenously using an AAV9 (Adeno-Associated Viral serotype 9) vector, which has the ability to cross the Blood-Brain-Barrier.


The trial has started in the USA with the first patient treated (May 2016). Please read article re Abeona announcement here


There are three planned trial sites: US, Spain and Australia. Following FDA approval, the US trial is currently recruiting (May 2016). For the US arm of the trial, it is expected there will be 9 Type A and 5 Type B patients treated at 2 different doses (low and high). Please see eligibility criteria on details Clinical trials destails (NCT02716246)

Read more about Abeonea and the ABX-A and ABX-B program:



Esteve & Autonomous University of Barcelona (Spain) / Sanfilippo Type A

Following successful pre-clinical testing of a gene therapy approach for the treatment of Sanfilippo Type A carried out by Fàtima Bosch and her team at the Universitat Autònoma de Barcelona (UAB), pharmaceutical company Esteve is currently in the planning stage of a human clinical trial Phase I/II. The gene therapy product has received orphan drug designation from the FDA (Foods & Drug Administration) in the US and the European Medical Agency (EMA).


The treatment approach consists of a single surgical intervention in which an AAV9 (Adeno-Associated Viral serotype 9) vector carrying a healthy copy of the SGSH gene is injected into the cerebrospinal fluid. The virus genetically modifies the cells of the brain and the spinal cord so that they produce sulfamidase, and then spreads to other parts of the body, where it continues to induce production of the enzyme.


Esteve expects to start its clinical trial in Q3 2017.


For more information, visit Esteve's Sanfilippo program information.


University of Manchester / H.A.N.D.S Consortium (US and Europe) / Sanfilippo Type C

Pre-clinical work on animal models is currently in progress and the human clinical trial is targeted to commence in Europe in 2017.


This trial involves gene therapy using an AAV9 vector delivered to the brain intracerebrally by a neuro-surgical procedure. A Natural History Study (NHS) is currently underway in the USA. 


This program is currently being funded and driven by the H.A.N.D.S. consortium, made up of International Sanfilippo Medical Research Foundations including Jonah's Just Begun, JLK- Sanfilippo Research Foundation, Sanfilippo Barcelona, Sanfilippo Sud, Sanfilippo Portugal and Levi's Life, Love and Laughter. 



Stem Cell Therapy:


University of Manchester's MPSIII Stem Cell Program (UK) / Sanfilippo Type A

Dr Brian Bigger from The University of Manchester has used stem cell gene therapy to treat Sanfilippo in mice. The University of Manchester has now signed a licensing agreement with a UK-based biotechnolgy company Orchard Therapeutics to bring its stem cell gene therapy program to human clinical trial.  


The technique works by genetically  correcting the patients own stem cells and implanting them via a bone marrow transplant to release the missing enzyme which travels to the brain.  The new study will take place at CMFT, supported by the NIHR/Wellcome Trust Manchester Clinical Research Facility.


For more information, visit

Manchester University Press Release  

United Press International: Stem cell gene therapy to be tested in humans

Manchester University Sanfilippo Announcement


Enzyme Replacement Therapy:


Shire's rhHNS program (multiple sites, international) / Sanfilippo Type A


 In August 2016 the pharmaceutical company Shire Pharmaceuticals announced the closure of its enzyme replacement therayp trial for Sanfilippo type A, citing the treatment had failed to slow cognitive decline. They made it clear that the program closure was not due to safety issues.


The enzyme replacement therapy for the treatment of MPSIIIA had used a recombinant human sulfamidase. As the enzyme is not able to cross the blood-brain barrier, the rhHNS was administered into the patient’s cerebral spinal fluid (CSF) via a surgically implanted intrathecal drug delivery device.


Patients had been enrolled in the Phase IIb clincial trial in multiple sites across the world ( United Kingdom, United States, Argentina, France, Germany, Italy, Netherlands, Spain,  United Kingdom) with MPSIII A patients aged between 1 and 4 years old.  


All patients have had their ports (intrathecal durg delivery devices) surgically removed and have ceased to recieve treatment. This was devastating news for the the 21 young children and their families involved in the trial and our hearts go out to them.  We will provide more information as it becomes available.

For more information, visit Shire website


Alexion's SBC-103 program (US) / Sanfilippo Type B

Pharmaceutical company Alexion, formerly known as Synageva BioPharma Corp, started in January 2015 a phase I/II clinical trial for their SBC-103 product for Sanfilippo Type B.


The clinical trial is taking place in the US and the UK, with administration of the recombinant human alpha-N-acetylglucosaminidase (rhNAGLU) at different dosages over a 6 month period. Patients are between 2 and 12 years of age. The trial includes extended treatment for up to 3 years for selected trial patients. The company is also conducting a natural history study in parallel with MPSIII B patients.


In July 2016 Alexion released encouraging preliminary results. For a summary of these results, click here

For more information, visit Alexion's website and Clinical trial details (NCT02324049).



BioMarin's BMN-250 / Sanfilippo Type B

BioMarin has developed a treatment for MPSIII B patients and has commenced clinical studies with BMN 250 in Australia, Brazil, Columbia, Europe (Germany, Turkey, Spain, UK) and Taiwan. BMN 250 is an enzyme replacement therapy using recombinant human NAGLU with an IGF2, or Glycosylation Independent Lysosomal Targeting (GILT) tag. The product is administered into the cerebrospinal fluid using the company's patented delivery methods, which can also be used for the delivery of other treatments lysosomal storage diseases. 


The company has now started human clinical studies for this treatment. Australia has been selected as a clinical trial site, where an observational and treatment study is currently enrolling patients. Read about the BioMarin clinical trial in press release.


For more information, visit Biomarin's website and see details Clinical trial details (NCT02754076)  


SOBI's SOB1003 for Sanfilippo Type A 

Swedish Orphan Biovitrum (SOBI) has been granted orphan designation by the European Commission (EC) to develop its Enzyme Replacement Therapy product  SOB1003, a chemically modified human recombinant sulfamidase for the treatment of Sanfilippo Type A. 


SOBI  is in the late stages of preclinical development of its product, and is preparing clinical studies which it aims to start in 2018. Clinical studies will foucs on exploring safety and efficacy of SOB1003.


Read press release here Orphan designation here


For more information visit SOBI's website


Substrate Reduction Therapy:


University of Manchester's MPSIII Genistein Trial (UK) - Sanfilippo Types A, B, C and D

The University of Manchester is currently conducting a phase III double-blinded, placebo-controlled clinical trial of high-dose oral Genistein Aglycone.  Previous research done by Pr Wegrzyn in Poland had concluded that Genistein had a potential efficacy for Sanfilippo patients at high dosage. A compound of Genistein is found in soy foods; it is non-toxic and is relatively cheap. It has already been found to reduce the amount of complex sugars stored in the brains of mice with Sanfilippo Syndrome and improve brain function. This human trial will determine the correct and safe dose, the effect of the drug on delaying the progression of the disease and how it improves symptoms.


The trial is funded by the MPS Society UK.


For more information, visit MPS Society UK