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 administered weekly directly into the cerebrospinal fluid of the brain (ICV) via a port implanted under the scalp. In February 2018 Dr Nicole Muschol from Germany presented preliminary results of the trial at the WORLD Symposium. She reported that six children had been treated in the trial at different dose levels.


Heparan sulfate was shown to decrease into the normal range in the cerebrospinal fluid and participants livers reduced to normal size. At the highest dose there was indication of stabilisation of cognitive ability, but it is still early days and further
evidence will need to be gathered to prove the benefit of this therapy. 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

SOBI's SOB1003 for Sanfilippo Type A 

SOBI, a biopharmaceutical company based in Stockholm, is developing an Enzyme Replacement Therapy product which is called "SOB1003". SOB1003 is a version of the enzyme that is missing in Sanfilippo Type A which has been chemically modified so that it lasts for longer inside the body, giving it more of a chance to get inside cells and do its job of breaking down GAGs. 
SOBI was given the green light by the FDA to start a clinical trial of this drug and granted Fast Track Status in January 2018. Read the Press Release Here.

For more information visit SOBI's website and 


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).  
All patients have had their ports (intrathecal drug delivery devices) surgically removed and have ceased to receive treatment. This was devastating news for the 21 young children and their families involved in the trial.

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

Alexion started a trial of SBC-103, an ERT for Sanfilippo type B, in January 2015 in the USA (and later in the UK and Spain). The ERT was delivered intravenously (into the blood stream). Despite initial encouraging results, the company announced in
late 2017 that it would not be continuing the development of SBC-103 because the trial failed to meet end points.

All patients involved in the trial have now had the treatment stopped. This wadevastating for the 11 patients and the families who were taking part in the trial.