The lysosomal storage disorders (LSDs) market will rapidly expand over our 2013-2023 study period, fueled primarily by an expansion in the number of LSDs with available therapies. A rich pipeline of novel agents is expected to launch, promoting sustained market growth. Among the LSDs expected to gain their first approved treatment are lysosomal acid lipase (LAL) deficiency, alpha-mannosidosis, and mucopolysaccharidosis VII (Sly syndrome). Additionally, currently treated LSDs also have novel drugs in the pipeline, aiming to improve on efficacy and convenience compared with existing therapies. Perhaps the biggest advance made by those therapies in the late-stage pipeline is the potential to address the neurological complications associated with LSDs. However, these emerging therapies will face major challenges, including safe and effective delivery to the central nervous system and identifying patients early enough for these drugs to provide therapeutic benefit. Nevertheless, as research continues to identify the potential causes of the various LSDs, the commercial opportunity to develop novel treatments will continue to grow.


Questions Answered in This Report:

  • Substrate reduction therapies (SRTs) and chaperone therapies offer potential oral treatment options for Gaucher’s and Fabry diseases, compared with the laborious infusions associated with enzyme replacement therapy (ERT). Are these oral therapies likely to gain significant market traction in place of ERT? Do physicians have concerns about their alternative mechanism of action and long-term safety?

  • The development of ERT for intrathecal administration represents the first significant opportunity to address the neurological complications associated with complete absence of enzymes in the central nervous system. Will intrathecally administered ERT address the neurological complications of the various LSDs? Will the lack of intrathecal device approval in the United States result in delays for the approval of these therapies in the United States?

  • A number of companies are developing next-generation ERT for some LSDs that already have an approved ERT. Will the next-generation ERT offer improved efficacy and safety compared with existing formulations? How will various payer and reimbursement authorities view these next-generation ERTs, which will likely carry a price premium to existing ERT?

  • Some of the treatments in the late-stage pipeline are for ultra-rare LSDs with an extremely small patient population. How will the drug companies identify appropriate patients to ensure a return on their investment? What price point will these drugs command given the very small patient populations affected?


Markets covered: United States, France, Germany, Italy, Spain, United Kingdom, Japan.

Primary research: 18 country-specific interviews with thought leaders.

Epidemiology: Prevalence of 20 LSDs.

Population segments in market forecast: Sphingolipidoses (Gaucher’s disease, Fabry disease, Niemann-Pick disease, metachromatic leukodystrophy); Mucopolysaccharidoses (Hurler syndrome, Hunter syndrome, San Filippo syndrome, Morquio syndrome, Maroteaux-Lamy syndrome, Sly syndrome); glycogen storage disorders (Pompe disease); glycoprotein storage disorders (Alpha-mannosidosis); neuronal ceroid lipofuscinosis (Jansky-Bielschowsky disease).

Emerging therapies: Phase II: 10 drugs; Phase III: 6 drugs; preregistration: 2 drugs. Coverage of select preclinical and Phase I products.

Market forecast features: Using a patient-based model, we forecast population sizes and drug sales for 15 LSDs through 2023.

Author(s): Eamonn O'Connor, Ph.D.
Kristin Dorfman, M.P.H., M.S.
Catherine Vasilakis-Scaramozza, Ph.D., M.P.H.