Quest Diagnostics Acquired Blueprint Genetics To Expand Its Product Portfolio In Lysosomal Storage Diseases Therapeutics Market

The growing prevalence of lysosomal storage diseases around the globe is driving the growth of the lysosomal storage diseases therapeutics market. For instance, according to a report updated by National Center for Biotechnology Information, in January 2020, the prevalence of Fabry disease in white, male populations was 1:17,000 to 1:117,000. Moreover, classic Fabry disease mutations were evident in around 1:22,000 to 1:40,000 males and atypical presentations were associated with about 1:1000 to 1:3000 males and 1:6000 to 1:40,000 females. Growing awareness regarding the rare disease among the population is another key factor augmenting the growth of the lysosomal storage diseases therapeutics market. For instance, the European Organization for Rare Diseases celebrates Rare Disease Day annually on the last day of the month of February.

1. In January 2020, Quest Diagnostics acquired Blueprint Genetics to expand its product portfolio in genetic and rare diseases

2. In 2019, Amicus Therapeutics, Inc. collaborated with the University of Pennsylvania, under which the company received disease-specific worldwide rights to the university’s Next Generation Gene Therapy Technologies from the Wilson Lab for LSDs and other twelve rare diseases.

Lysosomal Storage Diseases (LSDs), also known as Genetic Nonpolygenic Diseases are caused by structural mutations within the normal coding of the genes or the structure of the chromosomes. Lysosomal damage, which is caused by these genetic mutations, results in the disruption of vital regulatory domains of the cells (mitochondria). As a result of this structural disturbance, abnormal regulation of gene expression occurs leading to the accumulation of intracellular (intrapersonal) proteins and other waste products. These abnormal proteins accumulate in the cytoplasm of the absence of the regulatory proteins, forming the cytoskeleton of the cells. This forms a compact mass that develops into a specific kind of leukemia or fibroid.

North America is expected to dominate the global lysosomal storage diseases therapeutics market and this is attributed to the favorable reimbursement policies provided by the healthcare sector for rare disease treatment. In the U.S., Medicare and Medicaid programs provide a good extent of reimbursement for LSDs. Around 84% of prescription drug plans covered under Medicare part D and part B provide reimbursement for orphan drugs for FDA-approved indications. For instance, the cost of Fabrazyme therapy reimbursed under Medicare part B is 80% of the allowable amount for Fabrazyme, for beneficiaries who administer Fabrazyme at a physician’s office or as a hospital outpatient.