We would like to share the latest publication based on the data generated through the IPA/ Erasmus MC Pompe survey. 

Together with the International Pompe Association (IPA), the Erasmus University Medical Center (Erasmus MC) based in Rotterdam, Netherlands, has systematically collected data on patients with Pompe disease since 2002. Earlier findings from the survey include the demonstration of a positive effect of ERT on survival. Using data from this survey, it was investigated whether ERT reduces the risk that a patient will need a wheelchair or respiratory support. This is the first study to provide evidence that ERT with alglucosidase alfa reduces the risk that adult patients with Pompe disease will become wheelchair dependent (patients who received ERT had a 64% smaller probability of becoming wheelchair dependent than an untreated patient). Nevertheless, a proportion of treated patients still become wheelchair dependent at some point in their life. Hence, while ERT shows positive clinical effects in adult patients with Pompe disease, it has been concluded that there is still room for improvement. With regard to the risk for starting respiratory support, no differences could be detected. The IPA survey is an open cohort into which patients are continually included. It has been shown to be a good reflection of the clinical spectrum of adult patients with Pompe disease.

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Enzyme Replacement Therapy Reduces The Risk For Wheelchair Dependency In Adult Pompe Patients (PDF, 609 KB)
© The Author(s). 2018 Open Access. This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

Disclaimer

The IPA does not endorse any of the products, medications, treatments or information reported herein. Articles on the IPA web pages are intended for informational purposes, only. We strongly advise that you discuss all medications, treatments, and/or products with your physician.

The IPA would like to thank everyone who participated in the Talent of Pompe (ToP) Awards Contest on the occasion of the Fifth Annual International Pompe Day!

The IPA is very excited to announce the winners in each category:

Age 0-7

First Place: Abdurrahman Amerat

The sun gives us light, energy and it grows food to make everyone strong. It also makes the universe powerful.

Dear Pompe Patient Community Leaders,

At Audentes Therapeutics, we are focused on developing and commercializing gene therapy products for patients living with serious, life-threatening rare diseases. As with many rare conditions, there is limited published information available about the humanistic impact, or burden, that the condition has on the individuals and families living with it every day. While there is published literature discussing the clinical and humanistic burden of Pompe disease, there are still gaps in fully understanding certain aspects of the humanistic burden, particularly for infantile-onset Pompe disease (IOPD).

We believe that understanding the perspective of those living with Pompe disease and how it affects them is important to developing our clinical plans for new therapies to treat Pompe disease. Therefore, we recently partnered with medical experts to conduct and publish a comprehensive review, entitled, “The Humanistic Burden of Pompe Disease: Are There Still Unmet Needs? A Systematic Review.” This article was published in the journal called BMC Neurology and can be found here.