Dialog Box


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 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 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


In February Pharmaceutical company Alexion, formerly known as Synageva BioPharma Corp, 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 had started in January 2015 in the US and 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).



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 the USA, Australia, Brazil, Colombia, 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