Fabry disease is a type of inherited genetic disease caused due to abnormal deposition of a fatty substance, called globotriaosylcera-mide, in blood vessel walls throughout the body. This further leads to development of other complications, which result in severe morbidities and can also be fatal, in some cases. Anticipated growth of therapeutic pipeline of fabry disease can be attributed to the rareness of the disease, as it is usually found in males at an estimated ratio of one in 40,000 to 60,000 males. Although, the disorder occurs in females as well, its prevalence is still unknown. This disease can be cured using gene therapy and cell therapy, which are still in the development phase. With increasing support from various funding agencies such as National Organization of Rare Disorders (NORD), new and innovative therapies are being developed to cure the problem. Therefore, the therapeutic pipeline of Fabry disease is increasing.
In November 2016, FGK Clinical Research GmbH0 started Phase I, open-label, multi-center study to evaluate pharmacokinetics, pharmacodynamics, and safety of Moss-aGal in patients suffering from fabry disease. This study was completed in February 2017. Moss-aGal is a recombinant human alpha-galactosidase that is produced in moss. It is expected to be the first of its kind enzyme replacement therapy (ERT) for patients with the genetic lysosomal storage disorder, which exhibits optimized N-glycosylation patterns of the protein alpha-galactosidase A. In July 2016, Ozmosis Research Inc. started a Phase I clinical study on autologous stem cell transplantation of cluster of 34 positive (CD34+) cells engineered to express Alpha-galactosidase-A in patients with fabry disease. This study is expected to be completed in July 2022. In June 2016, Protalix Biotherapeutics Inc., started a Phase III trial for testing safety and efficacy of PRX-102, as compared to Agalsidase beta on renal function in patients with fabry disease previously treated with Agalsidase beta. PRX 102 demonstrated improved circulatory half-life, with better enzyme activity in target organs affected by fabry disease.
In July 2012, Amicus Therapeutics, Inc. and Glaxo Group Limited signed a collaborative agreement for development and commercialization of the investigational pharmacological chaperone migalastat HCl for fabry disease. This alliance is expanded for co-development of all current and future formulations of migalastat HCl for fabry disease, including a co-formulation of migalastat HCl with GlaxoSmithKline /JCR Pharmaceutical Co., Ltd.’s investigational enzyme replacement therapy (ERT) for fabry disease and commercialization of all future fabry disease products. The other key fact of this collaboration is that Amicus would commercialize all formulations of migalastat HCl in the U.S., while GlaxoSmithKline Plc would commercialize the same in the rest of the world. In June 2016, Ultragenyx Pharmaceutical Inc. entered into a collaboration with Takeda Pharmaceutical Company Limited for the development and commercialization of novel therapies to be used in the treatment of rare genetic diseases. Under this agreement, Ultragenyx Pharmaceutical Inc. received an exclusive license of one Pre-Clinical Takeda Pharmaceutical Company Limited product for the co-development of therapy against fabry disease and its commercialization too. In January 2017, Sanofi Plc announced recipients of its 6th annual Patient Advocacy Leadership (PAL) Awards, which supports the projects led by non-profit organizations that serve patients living with lysosomal storage disorders (LSDs). In January 2013, Genzyme Corporation and Alnylam Pharmaceuticals, Inc. had expanded their strategic collaboration to develop and commercialize treatments for rare genetic diseases. In this agreement, Genzyme Corporation would have rights to Clinical and Pre-Clinical drug candidates of Alnylam Pharmaceuticals, Inc.
Some of the companies having a pipeline of fabry disease therapeutics include Greenovation Biotech GmbH, GlaxoSmithKline Plc, Protalix Biotherapeutics, Inc., Amicus Therapeutics, Inc, Shire Plc, Genzyme Corporation, Ozmosis Research Inc.