Dr Florian Lagler: a paediatrician and pharmacologist’s experience with MPS II

Dr Florian Lagler is Chair of the Research Institute for Inborn Errors of Metabolism at Paracelsus Medical University, CEO of the Clinical Research Centre and Director of the Medical Simulation Centre in Salzburg, Austria. During his career, Dr Lagler has treated patients with Fabry disease, Gaucher disease, Pompe disease, mucopolysaccharidoses (MPSs) and other lysosomal storage diseases (LSDs). As a paediatrician and pharmacologist, Dr Lagler has designed many clinical trials, including pivotal studies of drug development programmes, and has published more than 60 scientific papers. In this video, Dr Lagler shares his experience of diagnosing and managing mucopolysaccharidosis type II (MPS II, also known as Hunter syndrome), highlighting the importance of a multidisciplinary team, specialist centres and referral networks. The MPS diseases are a group of rare, genetic, metabolic disorders.¹ All MPS diseases are inherited in an autosomal recessive pattern, meaning that some people might be carriers of the disease but are unaffected. MPS II is different from the other MPS diseases because its inheritance is X-linked, meaning that males are almost exclusively affected.² People with MPS do not have enough of an enzyme needed to break down a sugar, called a mucopolysaccharide or glycosaminoglycan (GAG). As a result, GAGs build up throughout the body and can cause damage to cells.¹ There are seven types of MPS disease that each lack different enzymes required to break down GAGs. All of the MPS disorders are progressive, meaning they worsen with time. They are also all heterogeneous, meaning that they can affect different people differently, often resulting in a spectrum of clinical severity from mildly to severely affected.² For more information on MPS II, please visit https://www.huntersyndrome.info/hcp/ The information found on this channel is not exhaustive, and is not intended to diagnose or advise in the treatment of any illness or disease. This information should not be used in place of advice from your general practitioner or other healthcare professional. If in doubt, please contact your doctor for advice. The views and clinical experiences shared in this video are those of the Speaker, and not necessarily those of the Sponsor. C-ANPROM/INT/HUNS/0156 April 2021 Copyright 2021 Takeda Pharmaceutical Company Limited. All rights reserved. Takeda and the Takeda Logo are trademarks of Takeda Pharmaceutical Company Limited. References: 1. Scarpa M et al. Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease. Orphanet J Rare Dis. 2011; 6: 72. 2. Muenzer J. The mucopolysaccharidoses: a heterogeneous group of disorders with variable pediatric presentations. J Pediatr. 2004; 144 (5 Suppl): S27-34.