Abeona is developing novel gene therapies for children with rare genetic diseases. Our initial programs utilize technology exclusively licensed from Nationwide Children’s Hospital for the treatment of the deadly childhood genetic diseases Mucopolysaccharidosis (MPS) IIIA and IIIB. Also known as Sanfilippo Syndromes type A and type B, MPS III is a progressive neuromuscular disease with profound CNS involvement.1-3 MPS III is a devastating lysosomal storage disease (LSD), caused by a single gene defect consisting of autosomal recessive defects in a lysosomal enzyme essential for the stepwise breakdown of a class of biologically important glycosaminoglycan (GAG), heparan sulfates.4-6 This results in in dramatic loss of intellectual ability due to improper cell function within the central nervous system (CNS), which results in cognitive decline, motor dysfunction, and eventual death.
Our two lead products, ABX-A and ABX-B, are viral vector based gene transfer drugs that can deliver the functioning version of the Sanfilippo genes to the CNS with the aim of reversing the effects of the genetic errors that cause the disease. After a single dose in Sanfilippo animals, ABX-A and ABX-B induced cells in the CNS and peripheral organs to produce the missing enzymes and help repair damage caused to the cells.
Safety studies conducted in large animal models have demonstrated that delivery of ABX-A and ABX-B are well tolerated with minimal side effects. Importantly, efficacy studies in animals with Sanfilippo syndrome have demonstrated functional benefits that remain for months after treatment. A single dose of ABX-A or ABX-B significantly restored normal cell and organ function, corrected cognitive defects that remained months after drug administration, increased neuromuscular control and increased the lifespan of animals with SF over 100% one year after treatment compared to untreated control animals. These results are consistent with studies from several laboratories suggesting ABX-A and ABX-B treatment could potentially benefit patients with for Sanfilippo Syndrome Type A and B, respectively. Development of a cost-effective treatment that can be administered as a single injection with the potential to significantly improve the quality of life of patients with Sanfilippo may have a major impact on an incipient $400M market. Activities leading to IND applications for both therapies are fully funded by disease foundations and NIH grants.
The Company closed on initial funding of $750,000 in November 2013 and currently seeks up to $5M to develop both ABX-A and ABX-B through Phase I/II clinical trials for treatment of Sanfilippo Syndromes A and B. Both ABX-A and ABX-B have received Orphan Drug Designation from the USA FDA.