4. Natural History Vs New History: Late Onset with Dr. Ans van der Ploeg скачать в хорошем качестве

4. Natural History Vs New History: Late Onset with Dr. Ans van der Ploeg

Title: Natural History of Pompe vs New History with Treatment - Late Onset Speaker: Professor Ans T. van der Ploeg, MD, PhD - Center for Lysosomal and Metabolic Diseases, Erasmus University Medical Center, the Netherlands Abstract: Pompe disease presents as a clinical spectrum. This means that Pompe disease can present at any age from infancy to late adulthood. The best delineated is the classic infantile form. Patients with the classic infantile form present shortly after birth with progressive muscle weakness and a hypertrophic cardiomyopathy. Without therapy this presentation will lead to cardiac and respiratory failure and death within the first year of life. Mutations in the acid alpha-glucosidase (GAA) gene are very severe and lead to complete deficiency of GAA activity. Cells of patients with the classic infantile form may produce some acid alpha glucosidase protein, but this GAA protein is inactive. These patients are (so called) CRIM positive, Cross Reactive Immunological material positive. There are also patients with the classic infantile form that produce no acid alpha glucosidase protein at all. These patients are called CRIM negative, Cross Reactive Immunological Material Negative. All patients not presenting with the classic infantile form (non-classic or late onset) are per definition CRIM positive. This means that cells of patients produce some residual GAA activity and residual levels of GAA protein. This explains the less severe presentation. Having said this, the clinical problems experienced by children and adults with Pompe disease are as significant, but mostly they occur at a slower pace. In the vast majority of these patients the heart is spared. Cardiac hypertrophy rarely occurs in adults. The presentation at the conference will focus on the clinical spectrum in children and adults with non-classic or late onset Pompe disease. It will highlight the presentation of symptoms in children and adults, the commonalities and the differences. Specific attention will be given to patients with the c.-32-13T G variant and a genetic modifier which explains in part the difference in onset between adults and children with the same genotype. Further the presentation will give an overview of the effects obtained with treatment in children and adults. What has been achieved so far and what are the current limitations that prompt us to improve treatment strategies and continue the search for next generation therapies. 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://amda-pompe.org/donate/