Current Sanfilippo research programs in the clinical stage

Written by Sanfilippo Children’s Foundation Australia, published over 3 years ago.

Gene Therapy


Lysogene SAF-301 (france)

Lysogene was founded by Karen Aiach, mother of a Sanfilippo Type A child in Paris, France. Lysogene is solely focused on finding a treatment for MPSIII using gene therapy technology, and in 2013 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. Lysogene has obtained orphan drug designation for its product from the FDA (Foods & Drug Administration) in the US and the European Medical Agency (EMA). The company is currently in the planning stage of the clinical trial's phase III.

For more information, see: 
SAF-301 clinical trial details

Institut Pasteur

A phase I/II gene therapy clinical trial for children suffering from Sanfilippo B syndrome, a rare genetic disease, enrolled a first patient in October 2013. The trial is being carried out and coordinated by the Institut Pasteur (the trial’s sponsor), Inserm, AFM-Téléthon and Vaincre les Maladies Lysosomales (VML). It is being conducted at Bicêtre Hospital (AP-HP) in Paris. If the treatment is successful it will pave the way towards the development of other gene therapy treatments using the same process.

The Institut Pasteur's intra-cerebral gene therapy trial for Type B currently taking place in Paris (funded by the AFM-Telethon).

For more information, see: 

Abeona Therapeutics & Nationwide Children's Hospital (USA)

Abeona Therapeutics is a new biotech with two gene therapy products ABX-A and ABX-B developed for Sanfilippo subtypes A and B. Successful pre-clinical studies carried out have been conducted by Drs Fu (Type B) and McCarty (Type A) at the Nationwide Children's Hospital in Columbus, Ohio, and the research program is soon to enter human clinical trial stage.

The program is the result of a unique collaboration between US-based patient groups and researchers at Nationwide Children’s Hospital in Ohio. A natural history study is being initiated with MPSIII A and B patients to gather data necessary to the Phase I/ II clinical trial which is planned to start late 2014. 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.

For more information about, see:

Nationwide Children's Hospital announcement

Esteve & Autonomous University of Barcelona (Spain)

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.

For more information, see: Esteve's Sanfilippo program information


Stem Cell Therapy


University of Manchester's MPSIII Stem Cell Program (UK)

Dr Brian Bigger from The University of Manchester has used stem cell gene therapy to treat Sanfilippo in mice. Researchers behind the study are now hoping to bring a treatment to trial in patients within two years. They are currently manufacturing a vector for use in humans and hope to use this in a clinical trial with patients at Central Manchester University Hospital NHS Foundation Trust by 2015. 

For more information, see: 
Manchester University Sanfilippo Announcement


Enzyme Replacement Therapy


Shire's rhHNS program (US, UK & Netherlands)

American-based pharmaceutical company Shire has developed an enzyme replacement therapy for the treatment of MPSIIIA using recombinant human sulfamidase. As the enzyme is not able to cross the blood-brain barrier, the rhHNS is administered into the patient’s cerebral spinal fluid (CSF) via a surgically implanted intrathecal drug delivery device.

Shire has completed a Phase I/II clinical trial with patients in the UK and The Netherlands, is now planning the trial's Phase IIb.

For more information, see: 
Shire website

Clinical trial details (HGT-SAN-055)


Substrate Reduction Therapy


University of Manchester's MPSIII Genistein Trial (UK)

The University of Manchester is currently conducting a phase III double-blinded, placebo-controlled clinical trial of high-dose oral Genistein Aglycone in MPSIIIA.  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, see:
MPS Society Genistein Trial Update

Written by Sanfilippo Children’s Foundation Australia, published over 3 years ago.

No comment for «Current Sanfilippo research programs in the clinical stage»

Expand all ]

No comment yet.

Leave a comment

You must be registered and signed in to leave a comment. Sign in now.