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Takeda to Present Research Advances in Rare Lysosomal Storage Disorders at 16th Annual WORLDSymposium™ 2020

February 10, 2020
  • 11 presentations will be presented across 4 lysosomal storage disorders, emphasizing Takeda’s commitment to patients with rare diseases


Takeda Pharmaceutical Company Limited (TSE:4502/NYSE:TAK) (“Takeda”) today announced that it will feature 11 presentations, including 10 posters, and one oral presentation highlighting its ongoing studies and commitment to rare lysosomal storage disorders at the 16th annual WORLDSymposium™ 2020 in Orlando, Florida, February 10-13. Presentations and other company activities will focus on Takeda’s continued research and development efforts in lysosomal storage disorders (LSDs) 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).

Takeda is also supporting, through an educational grant, a satellite symposium on building a better roadmap for care of Gaucher patients and sponsoring a satellite symposium on peripheral, central and autonomic neurodegenerative consequences in Lysosomal Diseases, as well as sponsoring a booth (Booth #100) in the WORLDSymposium exhibit hall.

“Each year, we look forward to supporting the lysosomal storage disorder community at WORLDSymposium, a unique, global congress that enables us to collaborate with the world’s leading LSD experts to discuss the latest advancements in treating diseases with a high unmet need,” said Donatello Crocetta M.D., Global Medical Head, Rare Immunology and Rare Metabolic Franchises. “Takeda remains dedicated to the rare disease community and collaborating with those who share our goal of improving the lives of patients and families faced with rare disease, including LSDs.”

The upcoming WORLDSymposium annual meeting is focused on the latest scientific and clinical research on LSDs, a collection of some 50 disorders caused by specific enzyme deficiencies that may lead to significant disability and disease burden.[1] The Congress offers four full days of discussion of new discoveries, cutting-edge research, and will feature over 480 scientific abstracts presented at three separate poster sessions. 

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

  • Clinical characteristics and health care resource utilization for patients with mucopolysaccharidosis II in the US: A retrospective chart review
    Poster #26, Monday, February 10, 2020 from 4:30-6:30 PM
  • Effect of intrathecal recombinant human arylsulfatase A enzyme replacement therapy on structural brain MRI in children with metachromatic leukodystrophy
    Oral presentation, Thursday, February 13, 2020 at 8:00 AM
    Poster #152, Monday, February 10, 2020 from 4:30-6:30 PM
  • Prompt initiation of agalsidase alfa therapy is associated with improved cardiovascular and renal outcomes in the Fabry Outcome Survey (FOS)
    Poster #178, Tuesday, February 11, 2020 from 4:30-6:30 PM
  • Home infusion therapy with agalsidase alfa for patients with Fabry disease in Germany and AustriaPoster #227, Tuesday, February 11, 2020 from 4:30-6:30 PM
  • Home infusion therapy with velaglucerase alfa for Gaucher disease type 1 in Germany and Austria
    Poster #272, Tuesday, February 11, 2020 from 4:30-6:30 PM
  • Routes to diagnosis of Fabry disease according to patient age and geographic distribution
    Poster #342, Wednesday, February 12, 2020 from 4:30-6:30 PM
  • Lyso-Gb1 as a biomarker of treatment outcomes in Gaucher disease: An evaluation of data from the Gaucher Outcome Survey (GOS) registry
    Poster #346, Wednesday, February 12, 2020 from 4:30-6:30 PM
  • Validation of the GED-C point-scoring system in true Gaucher disease patients
    Poster #370, Wednesday, February 12, 2020 from 4:30-6:30 PM
  • Use of agalsidase alfa in the elderly: Clinical outcomes from the Fabry Outcome Survey
    Poster #LB-27, Wednesday, February 12, 2020 from 4:30-6:30 PM
  • Attainment of therapeutic goals with ERT in patients with type 1 Gaucher disease in Germany: Interim results from the MUTIG study
    Poster #LB-46, Wednesday, February 12, 2020 from 4:30-6:30 PM


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 births.[3]


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 decline.[6] 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]


Metachromatic Leukodystrophy

Metachromatic Leukodystrophy (MLD) is a rare, inherited disorder that affects the central nervous system (CNS). MLD is a fatal, progressive demyelinating lysosomal disease caused by the deficiency of Arylsufatase-A (ARSA) leading to a toxic accumulation of sulfatides in the CNS and/or PNS.[9]   


About Takeda Pharmaceutical Company Limited

Takeda Pharmaceutical Company Limited (TSE:4502/NYSE:TAK) is a global, values-based, R&D-driven biopharmaceutical leader headquartered in Japan, committed to bringing Better Health and a Brighter Future to patients by translating science into highly innovative medicines. Takeda focuses its R&D efforts on four therapeutic areas: Oncology, Rare Diseases, Neuroscience, and Gastroenterology (GI). We also make targeted R&D investments in Plasma-Derived Therapies and Vaccines. We are focusing on developing highly innovative medicines that contribute to making a difference in people's lives by advancing the frontier of new treatment options and leveraging our enhanced collaborative R&D engine and capabilities to create a robust, modality-diverse pipeline. Our employees are committed to improving quality of life for patients and to working with our partners in health care in approximately 80 countries.

For more information, visit https://www.takeda.com.




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[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 recommendations for treatment in the era of enzyme replacement therapy. Eur J Pediatr. 2008. 167(3):267-77.

[5] Martin R. Recognition and Diagnosis of Mucopolysaccharidosis II (Hunter Syndrome). PEDIATRICS. Volume 121, Number 2, February 2008.

[6] Young I. A clinical and genetic study of Hunter's syndrome. 2 Differences between the mild and severe forms.

Journal of Medical Genetics, 1982, 19, 408-411.

[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.

[9] Rosenberg JB, Kaminsky SM, Aubourg P, Crystal RG, Sondhi D. Gene therapy for metachromatic leukodystrophy. J Neuroscience Res. 2016;94(11);1169-79.