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.

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.