Rare Disease Report

Sanfilippo Type B Update - Direct ERT to the Brain Being Developed

DECEMBER 09, 2014
James Radke

The Food and Drug Administration (FDA) has granted orphan drug designation for Biomarin’s BMN 250 for the treatment of Sanfilippo Syndrome Type B or Mucopolysaccharidosis IIIB (MPS IIIB). BioMarin expects to initiate clinical studies with BMN 250 in mid-2015.

BMN 250 is a novel fusion of alpha-N-acetyglucosaminidase (NAGLU) with a peptide derived from insulin-like growth factor 2 (IGF2). BMN 250 is an enzyme replacement therapy that will be delivered directly to the brain using BioMarin's patented technology.

Jean-Jacques Bienaimé, Chief Executive Officer of BioMarin said:

"BioMarin pioneered a proprietary approach to deliver large proteins directly to the brain, which bypasses the blood brain barrier and has typically proved difficult. This BioMarin technology to be used for the treatment of Sanfilippo patients builds on the experience we have gained using this approach to treat CLN2 disorder, a form of Batten disease.”

Several advocacy groups are pleased with this new development to address this currently untreatable condition. Kathleen Buckley, President of the Team Sanfilippo Foundation said:

"Children affected by MPS IIIB or Sanfilippo B have no approved drug treatment options, and the families affected by this terminal disease are hopeful that BioMarin will quickly advance its experimental therapy, which has the possibility of making a difference."

Barbara Wedehase, MSW, CGC, Executive Director of the National MPS Society added:

"BioMarin has been committed to developing therapies for many MPS disorders. We are encouraged that this biotechnology company is now turning its focus to MPS IIIB or Sanfilippo B Syndrome."

About Sanfilippo B syndrome

Sanfilippo Syndrome Type B or Mucopolysaccharidosis IIIB (MPS IIIB) is a lysosomal storage disease caused by deficiency in the enzyme alpha-N-acetyglucosaminidase (NAGLU), one of the four enzymes required for heparan sulfate degradation.  The accumulation of heparin sulfate in lysosomes leads to progressive neurocognitive deterioration. The first symptoms appear between the ages of 2 and 6 years old.  The prognosis is poor with death occurring in most cases in the late teens or early 20s. There are an estimated 1,000 - 2,000 patients in the developed world with Sanfilippo Syndrome Type B. 

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