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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.

Read more

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.

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.

Read more: The Humanistic Burden of Pompe Disease: Are There Still Unmet Needs? A Systematic Review.

NeoGAA, a new generation of enzyme replacement therapy developed by Sanofi Genzyme will be tested in 96 patients with type 2 glycogenosis (Pompe disease). The recruitment of this trial is ongoing.

This international trial takes place in more than 20 different countries.

The aim is to compare the safety of use and efficacy of neoGAA with the only treatment currently available in Pompe disease. For this, 96 people who have not been previously treated for Pompe Disease, will be treated for 1 year, either by neoGAA or by Myozyme®. After this first year, all patients will receive NeoGAA for about 2 years. This clinical trial began in October 2016 and is expected to be completed by 2020.

A new generation recombinant enzyme

NeoGAAA and Myozyme® are recombinant forms (created by genetic engineering) of human acid alpha-glucosidase (GAA), the defective enzyme in Pompe disease. Myozyme® has been used since 2006 in the treatment of Pompe disease.

NeoGAA is a drug candidate developed from Myozyme® to increase its effectiveness. It has already been tested in humans in a phase 1/2 trial (NEO1), conducted in 24 people with Pompe disease for 6 months. Based on first results from this trial, the European Medicines Agency has attributed this molecule an orphan drug status. This designation applies to drug candidates (who have not yet proved their effectiveness) in rare diseases, in order to facilitate the different stages of their development.

To participate in the trial

The trial takes place in more than 75 different centers around the world. Individuals wishing to apply to participate in this trial must meet a number of criteria and obligations related to the trial protocol (to ensure valid and reliable conclusions). Among the main criteria, one must be suffering from Pompe disease, be over 3 years old and have never received a Myozyme® infusion.

If you have any questions or would like to participate in this trial as a patient, please contacty our treating physician.

Read more: Update on a Clinical Trial (COMET Study by Sanofi Genzyme)

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