Dialog Box


Enzyme Replacement Therapy 


BioMarin's BMN-250 / Sanfilippo Type B

BioMarin has developed an enzyme replacement therapy for Sanfilippo Type B called "BMN 250" and has commenced clinical studies in Germany, Spain, Taiwan, Turkey and the UK. Australia was selected to take part in the observational study running in parallel with the clinical trial, but no children have as yet been recruited for treatment in Australia.


BMN 250 is the missing enzyme in Sanfilippo Type B (NAGLU) artificially produced in the laboratory with an added tag to help it reach the cells of the brain. BMN 250 is administered into the cerebrospinal fluid.


In September 2017, BioMarin presented promising preliminary results from their clinical trial of BMN 250. The preliminary results showed that levels of toxic heparan sulfate that builds up in childen with Sanfilippo Syndrome, were reduced into the normal rangein the three treated children. Their livers,  which were enlarged at the start of the study, also decreased in size. Encouragingly, two of the three participants showed improvement or sabilisation in cognitive tests. The treatment was generally well tolerated but there were some side effects, mostly due to the invasive way that the therapy is delivered.


Part 2 of the study is now continuing which will involve around 30 additional children to give the full picture on the safety and effectiveness of this treatment. 


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 which is called "SOB1003". It is a chemically modified human recombinant sulfamidase (artificially created in the lab) 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 focus on exploring safety and efficacy of SOB1003.


Read press release here Orphan designation here


For more information visit SOBI's website


Enzyme Replacement Therapy trials cancelled or on hold

Shire's enzyme replacement program (multiple sites, international) / Sanfilippo Type A
 In August 2016 the pharmaceutical company Shire Pharmaceuticals announced the closure of its enzyme replacement therapy 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 Sanfilippo Type A had used a sulfamidase enzyme artificially produced the laboratory. As the enzyme is not able to cross the blood-brain barrier, it 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 clinical trial in multiple sites across the world (United Kingdom, United States, Argentina, France, Germany, Italy, Netherlands, Spain, United Kingdom) with Sanfilippo Type A patients aged between 1 and 4 years old.  
All patients have had their ports (intrathecal drug delivery devices) surgically removed and have ceased to receive 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

In February 2017 Pharmaceutical company Alexion announced it would be  "reducing its investment" in its SBC-103 product for Sanfilippo Type B and stated in its fourth quarter earnings report that while "patients will continue to receive SBC-103, there are no additional studies planned".
A clinical trial had started in January 2015 in the US and the UK offering a phase I/II clinical trial for their SBC-103 product for Sanfilippo Type B, administrating the recombinant human alpha-N-acetylglucosaminidase (rhNAGLU) at different dosages over a 6-month period. Patients were between 2 and 12 years of age. The trial had extended treatment for up to 3 years for selected trial patients.
Read an article about the potential shelving of the Alexion trial here and the official press release here
In July 2016 Alexion had released encouraging preliminary results. For a summary of these results, click here

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