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Shire to Highlight Advancements in Diagnosis, Treatment and Management of Rare Lysosomal Diseases at Global Conference

February 5, 2018

12 presentations and three satellite symposia showcase Shire’s commitment to improving understanding and treatment of these life-altering disorders

Cambridge, Ma. – February 5, 2018 – Shire plc (LSE: SHP, NASDAQ: SHPG), the global biotechnology leader in rare diseases, today announced that it will have 12 presentations, including 11 posters and one oral presentation, at the 14th annual WORLDSymposium™ 2018 in San Diego, Calif., February 5-9. Shire will share research data for four lysosomal disease areas, including Hunter syndrome (also known as Mucopolysaccharidosis type II or MPS II), type 1 Gaucher disease, Fabry disease and metachromatic leukodystrophy (also known as MLD).

The company will also sponsor three satellite symposia and host an exhibit at WORLDSymposium™ (booth #301).

“We are proud to participate again at this year’s WORLDSymposium, a unique conference that focuses exclusively on lysosomal diseases, an area that formed the beginning of Shire’s strong commitment and focus on rare diseases,” said Hartmann Wellhoefer, M.D., Vice President, Head of Rare Diseases and Internal Medicine, Global Medical Affairs, Shire. “This meeting brings together the world’s leading experts in the rare disease community to exchange the latest scientific knowledge and data about lysosomal diseases, along with advocacy groups who share valuable patient insights and perspectives. We look forward to sharing our data and contributing to the dialogue regarding earlier diagnosis, treatment and management of rare diseases.”

The congress is focused on sharing the latest information for lysosomal diseases, a collection of some 50 clinical syndromes, each resulting from the deficiency of a particular protein and causing a significant amount of disability and disease burden1.

Shire’s presence at the meeting includes the following key presentations, which are intended for scientific discussion only:

  • Infusion-related reactions in patients with mucopolysaccharidosis type II on idursulfase enrolled in the Hunter Outcome Survey (HOS): an update
    Poster #37, Tuesday, February 6, 2018 from 4:30-6:30 pm PT, Harbor Ballroom
  • Intrathecal delivery of recombinant human arylsulfatase A in children with late-infantile metachromatic leukodystrophy: a post hoc analysis of responders and non-responders
    Poster #118, Tuesday, February 6, 2018 from 4:30-6:30 pm PT, Harbor Ballroom
  • Metachromatic leukodystrophy and caregiver perspectives: understanding the natural history of the disease from interviews with caregivers
    Poster #135, Tuesday, February 6, 2018 from 4:30-6:30 pm PT, Harbor Ballroom
  • Menarche, menopause and pregnancy data in untreated females and females treated with agalsidase alfa in the Fabry Outcome Survey
    Poster #155, Tuesday, February 6, 2018 from 4:30-6:30 pm PT, Harbor Ballroom
  • Profile of natural history in 104 patients with mucopolysaccharidosis type II: insights from the Hunter Outcome Survey (HOS)
    Poster #172, Tuesday, February 6, 2018 from 4:30-6:30 pm PT, Harbor Ballroom
  • Management goals and normalization concept for type 1 Gaucher disease: results from a survey of expert physicians
    Poster #237, Wednesday, February 7, 2018 from 4:30-6:30 pm PT, Harbor Ballroom
  • Modeling and simulation of SHP611 in patients with metachromatic leukodystrophy (MLD): a preliminary evaluation
    Poster #380, Wednesday, February 7, 2018 from 4:30-6:30 pm PT, Harbor Ballroom
  • Projected Retained Ability Score (PRAS): a new methodology applied to DAS-II GCA scores for the longitudinal assessment of cognitive abilities in pediatric and adolescent patients with Hunter syndrome
    Poster #411, Wednesday, February 7, 2018 from 4:30-6:30 pm PT, Harbor Ballroom
  • Spectrum of genetic mutations in patients in the Fabry Outcome Survey (FOS)
    Poster #LB-19, Wednesday, February 7, 2018 from 4:30-6:30 pm PT, Harbor Ballroom
  • Demographic characteristics and GLA mutations in Taiwanese patients with Fabry disease: an analysis of data from the Fabry Outcome Survey (FOS)
    Poster #LB-24, Wednesday, February 7, 2018 from 4:30-6:30 pm PT, Harbor Ballroom
  • Long-term data analysis of 65 patients with Gaucher disease from the velaglucerase alfa clinical trial program who entered GOS
    Poster #LB-31, Wednesday, February 7, 2018 from 4:30-6:30 pm PT, Harbor Ballroom
  • Efficacy and safety of intrathecal idursulfase in pediatric patients with mucopolysaccharidosis type II and early cognitive impairment: design and methods of a controlled, randomized phase II/III multicenter study
    Oral presentation, Thursday, February 8, 2018 at 10:15 am PT, Seaport Ballroom

Shire will also be sponsoring several symposia at the meeting:

Sponsored by Shire Commercial

  • More Than a Glycolipid Storage Disorder – The Role of Inflammation in Fabry Disease
    Wednesday, February 7 from 6:30-7:30 am PT
    Seaport D-H (General Session Room)
    For Non-US Health Care Professionals only

Sponsored by Shire Medical

    • Normalization in Gaucher Disease – Does It Matter?
      Tuesday, February 6 from 6:30-7:30 am PT
      Seaport A-C
      For Non-US Health Care Professionals only


  • Cognitive Impairment in Patients with MPS II: From Disease Burden to Cognitive Testing
    Wednesday, February 7 from 11:45 am-12:45 pm PT
    Seaport D-H (General Session Room)

About the Genetic Diseases Franchise
Shire is a dedicated champion for people with rare diseases, which are typically inherited illnesses. Shire’s Genetic Diseases franchise has a strong legacy in developing therapies for lysosomal diseases, with a portfolio that includes commercial products and a robust R&D program with late-stage investigational therapies and pipeline candidates. The company’s commercial products address the following three disease areas:

    • Fabry Disease
      Fabry disease is a lysosomal disease affecting both males and females that interferes with the body’s ability to break down a specific fatty substance (globotriaosylceramide or Gb3) which accumulates within the body due to deficiency of a specific enzyme (α-galactosidase A)2. Fabry disease affects an estimated 1 in 117,000 live births3.


    • Hunter Syndrome
      Hunter syndrome is a severely debilitating, rare lysosomal disease caused by a deficiency of iduronate-2-sulfatase, an enzyme that is needed to break down substances in the body called glycosaminoglycans (GAGs)4. Without this enzyme, GAGs can build up, causing a range of disease-related signs and symptoms.4,5 Roughly two of every three patients with Hunter syndrome are also affected with progressive cognitive decline6. Hunter syndrome affects 1 in 162,000 total live births, and almost exclusively males.3


  • Type 1 Gaucher Disease
    Type 1 Gaucher disease is a rare, inherited metabolic condition, and the most common lysosomal disease. It affects approximately 1 in 100,000 people in the general population, and 1 in 855 people in the Ashkenazi Jewish community.7 Patients with type 1 Gaucher disease may experience varying symptoms and degrees of disease severity, making type 1 Gaucher disease difficult to diagnose.8

Non-US HCPs: For additional information about agalsidase alfa, click here.

For additional information about idursulfase, click here.

For additional information about velaglucerase alfa, click here.

For further information please contact:

Investor Relations    
Christoph Brackmann [email protected] +41 795 432 359
Sun Kim [email protected] +1 617 588 8175
Robert Coates [email protected] +44 203 549 0874
Annabel Cowper [email protected] +41 79 630 8619
Gwen Fisher [email protected] +1 215 482 9649


About Shire

Shire is the global leader in serving patients with rare diseases. We strive to develop best-in-class therapies across a core of rare disease areas including hematology, immunology, genetic diseases, neuroscience, and internal medicine with growing therapeutic areas in ophthalmics and oncology. Our diversified capabilities enable us to reach patients in more than 100 countries who are struggling to live their lives to the fullest.

We feel a strong sense of urgency to address unmet medical needs and work tirelessly to improve people’s lives with medicines that have a meaningful impact on patients and all who support them on their journey.


1 Fuller M, Meike PJ, Hopwood JJ. Epidemiology of lysosomal storage diseases: an overview. In: Mehta A, Beck M, Sunder-Plassmann G, editors. Fabry Disease: Perspectives from 5 Years of FOS. Oxford: Oxford PharmaGenesis; 2006. Chapter 2.

2 Fabry Disease. National Organization for Rare Disorders. Accessed January 2018. Available at: https://rarediseases.org/rare-diseases/fabry-disease/

3 Meikle PJ et al. Prevalence of Lysosomal Storage Disorders. JAMA. 1999. 281(3):249-54.

4 Wraith JE et al. Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and (3):267-77.

5 Wraith JE. Idursulfase for enzyme-replacement therapy in mucopolysaccharidosis II. Therapy. 2007. 4(3):231-240.

6 Muenzer J et al. A phase I/II study of intrathecal idursulfase IT in children with severe mucopolysaccharidosis II. Genet Med. 2016. 18(1):73-81.

7 Guggenbuhl P, Grosbois B, Chalès G. Gaucher disease. Joint Bone Spine. 2008; 75(2):116-124.

8 Grabowski GA. Phenotype, diagnosis, and treatment of Gaucher’s disease. Lancet. 2008; 372:1263-71.