Gene Therapy:

Abeona Therapeutics & Nationwide Children’s Hospital (USA) / Sanfilippo Types A and B

abeona MPS3 terapia genowa

Abeona Therapeutics is a biotech formed specifically to develop two products; ABX-A and ABX-B, for the treatment of Sanfilippo subtypes A and B. The program is building on successful pre-clinical studies conducted by Drs Fu (Type B) and McCarty (Type A) at the Nationwide Children’s Hospital in Columbus, Ohio. The program is the result of a unique collaboration between patient groups, researchers at Nationwide Children’s Hospital in Ohio and Abeona. Initially funded by international patient groups, Abeona recently merged with PlasmaTech Biopharmaceuticals, Inc. (May 2015), and as result has strengthened its position as a leader in the development of gene therapy treatments for MPSIII. The biotech is currently conducting a natural history study with MPSIII A and B patients to gather data necessary to the Phase I/ II clinical trial. 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. The trial will take place in the US and in Spain, and potentially in a third site in Australia, and is planned to start later in 2015. For the US arm of the trial, it is expected there will be 9 Type A and 5 Type B patients treated at 3 different doses (low, medium and high). The eligibility criteria for recruitment have not yet been released but the team has confirmed that geographic location is not an excluding factor and the US trial is expected to consider international patients for participation.

Read more about Abeona and the ABX-A and ABX-B program:

Institut Pasteur (France) / Sanfilippo Type B

The Pasteur Institute in France has recently completed treatment of 4 patients with Sanfilippo Type B as part of a phase I/II clinical trial for a gene therapy product. This trial involved an AAV10 vector delivered to the brain intracerebrally by a neuro-surgical procedure and is very similar in its approach to the Lysogene treatment, but focused on type B instead of A. Results are expected to be published later in 2016.

Enzyme Replacement Therapy:

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

alexion MPS3-zastepcza terapia enzymatyczna

Pharmaceutical company Alexion, formerly known as Synageva BioPharma Corp, started in January 2015 a phase I/II clinical trial for their SBC-103 product for Sanfilippo Type B. The clinical trial is taking place in the US and the UK, with administration of the recombinant human alpha-N-acetylglucosaminidase (rhNAGLU) at different dosages over a 6 months period. Patients are between 2 and 12 years of age. The trial includes extended treatment for up to 3 years for selected trial patients. The company is also conducting a natural history study in parallel with MPSIII B patients.

Biomarin’s BMN-250 / Sanfilippo Type B

Biomarin MPS3 enzymatyczna terapia zastepcza

BioMarin has developed a treatment for MPSIII B patients and has commenced clinical studies with MN B250 in Australia, Brazil, Columbia, 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 2016.

Substrate Reduction Therapy:

University of Manchester’s MPSIII Genistein Trial (UK) – Sanfilippo Types A, B, C and D

The University of Manchester is currently conducting a phase III double-blinded, placebo-controlled clinical trial of high-dose oral Genistein Aglycone. Previous research done by Prof 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.


Sanfilippo Children's Foundation