Guest blog: Sanfilippo Syndrome – stakeholders uniting for gene therapy

In Advocacy, Partnering & Investment by Caroline Hornby

This guest blog post was kindly provided by Orphan Druganaut Blog.

The power and influence of stakeholders on furthering the development of gene therapy for rare diseases is powerful. The trend is for patient advocacy groups to invest money in pharmaceutical companies that are working with academic institutions and research hospitals, to develop new treatment options, including gene therapy, for rare diseases. Patient advocacy groups provide large capital investment in preclinical and clinical research programs. The collaboration unites the rare disease community, pharmaceutical companies, academia, and research hospitals, with the common goal of supporting the development of new treatments.

One such pharmaceutical company is Abeona Therapeutics, who in partnership with scientists at Nationwide Children’s Hospital, and with financial support from multiple patient advocacy groups, are collaborating to develop gene therapies for the rare disease, Sanfilippo (SF) Syndrome or Mucopolysaccharidosis III (MPS III).  MPS falls within a broader group of genetic disorders known as the Lysosomal Storage Diseases (LSDs).  SF is one of seven (MPS disorders.

SF is a genetic metabolism disorder that prohibits the proper breakdown of the body’s sugar molecules. There are 4 types of MPS III (MPS III A, MPS III B, MPS III C, and MPS III D), each with a deficiency in one of four lysosomal enzymes:

•   Heparin N-sulfatase for MPS III A
•   N-acetyl-alpha-D-glucoasaminidase for MPS III B
•   Acetyl-CoA:alpha-glucosaminidase for MPS III C
•   N-acetylglucoasamine-G-sulfate sulfatase for MPS III D.

The disease first affects the central nervous system, causing severe brain damage, and typically results in hearing loss, vision loss, organ damage, bone deformities, and eventual death. There is currently no approved treatment for SF.

Abeona Therapeutics, a Cleveland-based spinoff of Nationwide Children’s Hospital, is created in March 2013, to develop therapies for Lysosomal Storage Diseases (LSDs). Abeona in Roman Mythology is the Goddess of Departures. She protects children as they step away from home for the first time, keeping them safe as they venture into the world. Her name comes from the Latin verb abeo, “to depart, go away, or go forth”.

Collaborating scientists in Abeona Therapeutics’ Sanfilippo Consortium, recently receive the Champion of Hope Award for Collaboration in Advocacy, from the Global Genes | RARE Project.  Many SF patient advocacy organizations are partnering and providing financial support to expand and advance SF gene therapy for clinical trials. Here are just a few :

•   Ben’s Dream
•   The Children’s Medical Research Foundation
•   The Sanfilippo Children’s Research Foundation
•   Team Sanfilippo Foundation.

Other SF patient advocacy organizations and foundations are listed on Abeona Therapeutics’ website under “Partnerships”. Internationally, the Foundation Sanfilippo in Switzerland and Stop Sanfilippo in Spain, contribute funds towards helping to get SF gene therapy to clinical trials, that are targeted for 2014.

Abeona Therapeutics has exclusive rights to develop two gene therapy products, ABX-A and ABX-B, for MPS III A and MPS III B. These two products are based on therapies developed by scientists at Nationwide Children’s Hospital. Both products deliver the therapeutic product to the central nervous system with the aim of reversing the effects of the genetic errors that cause SF. Large animal model studies have shown that the delivery of ABX-A and ABX-B is well tolerated with minimal side effects. Efficacy studies in animals with SF have shown therapeutic benefit months after treatment. According to Abeona Therapeutics website, a single dose of either of the two products, “restored normal cell and organ function and increased the lifespan of animals with SF over 100 % a year after treatment compared to untreated control animals. Similarly, animals treated with ABX-A and ABX-B demonstrated significant corrections of cognitive defects that remained months after drug administration.”

Nationwide Children’s Hospital has started a natural history study and registry of MPS III A and MPS III B patients. Abeona Therapeutics is raising funds for two Phase I/II clinical trials that are planned for starting in 2014. The company plans to file for orphan drug status before the clinical trials start.

No gene therapy has ever been approved for sale in the United States. In Europe, the EMA (European Medicines Agency), has given regulatory approval to UniQure, to sell its gene therapy, Glybera, for the treatment of the rare disease, Lipoprotein Lipase Deficiency (LPLD).

For more information on rare diseases and orphan drugs, check out World Orphan Drug Congress USA. Orphan Druganaut Blog is a media partner of this event.

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