5. Enzyme Replacement Therapies: Changing the Natural History of LOPD with Prof. Mark Roberts скачать в хорошем качестве

5. Enzyme Replacement Therapies: Changing the Natural History of LOPD with Prof. Mark Roberts

Title: Enzyme Replacement Therapies: Changing the Natural History of LOPD Session: Natural History of Pompe Vs. New History With ERT Speaker: Professor Mark Roberts, MSc, MBChB, FRCP, MD Salford Royal NHS Foundation Trust, United Kingdom Abstract: LOPD is a heterogenous, multisystem disorder which slowly worsens. The age of symptoms and later diagnosis correlates with the degree of GAA enzyme deficiency. Following the development of CHO derived recombinant humanised GAA algucosidase alfa (ALG) as Enzyme Replacement therapy (ERT) the LOTS trial demonstrated improved pulmonary function and motor function compared to placebo. After initial benefits of ALG for 3-5 years patients unfortunately decline. The rationale for enhanced ERT to address this unmet treatment needs is addressed, and the trials programme for avalglucocidase alfa (AVAL) and the cipaglucocidase alfa combined with Miglustat (CIPA MIG) is reviewed. Speaker Biography: Mark Roberts was appointed Consultant in Adult Neurology and Muscle Disease in 2000 in Manchester. He has developed MDT working across the North West of England including Joint Respiratory &Ventilation, Rheumo-myology, Metabolic Myopathy clinics. He has lectured and published widely on metabolic and Neurological disorders. He is considered a National expert in Metabolic Myopathies. He has seen over half of all adult patients with Pompe Disease in the UK. All Rights reserved. No part of this video may be reproduced or transmitted in any form or by any means, electronic or mechanical, without the written permission of the copyright holder. Website: https://amda-pompe.org/ We Need Your Help! https://www.paypal.com/donate?token=D...