You are cordially invited to join our “Journey into Rare World – Everyone’s role in diagnosis of Pompe disease: Live Webinar”, which will be held on 8 July 2020, 8pm-9pm (Malaysia/Singapore Local Time).

Pompe disease is a rare disorder affecting 1 in 40,000 people worldwide. It is caused by the deficiency of lysosomal enzyme acid alpha-glucosidase (GAA), leading to a build-up of glycogen in the muscles. It is a progressive, debilitating and often fatal neuromuscular disorder ^1-4 The rarity of the disorder, its variable clinical presentation and overlap of signs and symptoms with other neuromuscular disorders often contribute to delayed diagnosis⁵.

Sanofi is committed to raise awareness of Pompe disease among healthcare professionals and to help improve their understanding of the course of the disease to provide the best care for their patients. “Journey into Rare World- Everyone’s role in diagnosis of Pompe disease Live Webinar” features a renowned speaker from the National Taiwan University Hospital; Dr Chien Yin-Hsiu, M.D., PhD. Department of Medical Genetics and Paediatrics, to talk about the disease’s prevalence, signs and symptoms, screening and diagnostic tools, and current treatment modalities.

We look forward to you joining us on 8 July, Wednesday at 2000-2100 (GMT+8; MYSG and TW time)!

REGISTER NOW

After registering, you will receive a confirmation email containing information about joining the webinar.

References:

1. National Institute of Neurological Disorders and Stroke. Pompe disease information page. Available at https://www.ninds.nih.gov/Disorders/All-Disorders/Pompe-Disease-Information-Page. Accessed on 24 March 2020.
2. U.S. National Library of Medicine. Pompe disease. Available at https://ghr.nlm.nih.gov/condition/pompe-disease. Accessed on 24 March 2020.
3. Kishnani PS, Steiner RD, Bali D, et al. Pompe disease diagnosis and management guideline. Genet Med. 2006;8(5):267-88.
4. Kishnani PS, Amartino HM, Lindberg C, Miller TM, Wilson A, Keutzer J; Pompe Registry Boards of Advisors. Timing of diagnosis of patients with Pompe disease: data from the Pompe registry. Am J Med Genet A. 2013;161A(10):2431-43.
5. Puertollano R, Raben N. Pompe disease: how to solve many problems with one solution. Ann Transl Med. 2018;6(15):313. 7. Taglia A, Picillo E, D’Ambrosio P, Cecio MR, Viggiano E, Politano L. Genetic counseling in Pompe disease. Acta Myol. 2011;30(3):179-81