Mucopolysaccharidosis (Morquio Syndrome), is a group of inherited disorder in which body becomes unable to breakdown the mucopolysaccharides. Accumulation of mucopolysaccharides in cells as well as connective tissues causes the malfunctioning of metabolic enzymes. This malfunctioning may lead to occurrence of variety of health problems. Mucopolysaccharidosis is autosomal dominant in most cases involving X-linked pattern of inheritance. The signs and symptoms of the disease varies by the type of mucopolysaccharidosis. Some of the other complications of the disease include affected physical appearance and malfunction of organ’s system functioning and its cognitive development in most cases.
The prevalence of mucopolysaccharidosis varies based on its types. According to the Orphanet, one person in a population of 100,000 is affected with mucopolysaccharidosis type I or Hurler syndrome. According to the Journal of Applied Genetics, a survey was conducted between 1970 to 2010, which found that the prevalence of mucopolysaccharidosis type III was 0.86 out of 100,000 live births. Additionally, the prevalence in Polish population was estimated to be 1.81 out of 100,000 individuals. The growth in the pipeline of mucopolysaccharidosis therapeutics is attributed to increasing technical advancements in molecular biology and genetics. Gene therapies, cell therapies, immunotherapies and microRNA are the first line of treatment of mucopolysaccharidosis. The funding from rare disease organizations is also one of the factors, which is expected to increase the collaboration between companies, associations and institutes for the development of therapies for the treatment of mucopolysaccharidosis.
Various companies have conducted clinical trials for evaluating the effectiveness and safety of drugs for the treatment of mucopolysaccharidosis. Many drugs have shown promising results in treatment of the disease. For example, UX003 from Ultragenyx Pharmaceutical Inc. in Phase I/II, HGT-1410 from Shire plc in Phase II, BMN 110 from BioMarin Pharmaceutical Inc. in Phase III, Recombinant human heparan N-sulfatase [rhHNS] from Shire plc in Phase II, AGT-181 from ArmaGen, Inc in Phase I/II, JR-141 from JCR Pharmaceuticals Co., Ltd. in Phase I/II have shown promising results. Some of the drugs are in Pre-Clinical stage of development such as, RGX-111, RGX-121 from Regenbio Inc., which were used for the treatment of mucopolysaccharidosis in canine models and mouse models, respectively. Regenbio Inc. is expected to submit the Investigational New Drug Application (IND) application for Phase I/II clinical trial of RGX-121 in the first half of 2017, whereas, RGX-121 has been granted both orphan as well as rare pediatric disease designation by the U.S. Food and drug Administration (USFDA).
In May 2017, the gene therapy, SB-913 from Sangamo Therapeutics Inc., was granted a rare pediatric disease designation by USFDA. In January 2017, another gene therapy from Sangamo Therapeutics Inc., SB-318, was designated as orphan drug by the USFDA.
Some of the companies having a pipeline of Mucopolysaccharidosis therapeutics include, Ultragenyx Pharmaceutical Inc., Shire plc, BioMarin Pharmaceutical Inc., ArmaGen Inc., Genzyme Inc., JCR Pharmaceuticals Co., Ltd., Green Cross Corporation, Alexion Pharmaceuticals Inc., Concert Pharmaceuticals Inc.