Welcome to the International Pompe Association (IPA)
When I joined the AMDA Pompe congress in San Antonio in October this year, it was a really great experience to meet so many other Pompe fellows from all over the world. It was striking that all English speaking guys seemed to be very well connected via Facebook, GSDNET and in their local groups.
At home, in our Swiss Pompe group we have right now only 15 members, 10 patients and 5 relatives. We meet only once a year, so there is not very much communication going on, except our rare meetings. But we know that there are about 30 Pompe patients in Switzerland, so our group has reached only one third of them, until now. A part of this problem is that Switzerland is a small country with only eight million people, but with four official languages, many other languages spoken and with regional and cultural quite different, enclosed structures.
All our current members are living in the German speaking part of Switzerland. Until now we have no French or Italian speakers in our group, which is of course not on purpose but it’s quite common that the native speakers stay in their own language region. So, what to do? As a first step we decided to set up a simple website, www.mpompe.ch, to offer information about our group, about upcoming meetings and other Pompe related news. As a second step we will contact all 30 Pompe patients with a letter and inform them about our group and the new website. Since data protection is very serious in Switzerland, we can't get the patient addresses from the national Pompe register, but we can send our letter to the infusion centres who will hand them out to the patients.
And our website has to be extended. We need to set up the site in French and Italian, and we want to add some easy to use blog, where every member can post their news or questions. This hopefully will lead to a larger group and to more communication.
Pompe disease was first described some by Dr Johannes Pompe in 1932, some 83 years ago, but it is the last 20 years that has seen the most dramatic research leading to benefits for patients and families living with the condition. And it is no coincidence that the Acid Maltase Deficiency Association has been a prime motivator in many aspects of Pompe disease research since their first conference 1996 in San Antonio; a meeting that was to bring researchers together to work collaboratively, rather than in isolation. And collaboration between clinicians, researchers and patient groups was very much a theme of this year’s International Pompe Patient and Scientific Conference in San Antonio, Texas.
An interesting innovation for this conference was the Twitter feed and Hash-tag #AMDAIPA15. This provided a great source of each day’s highlights and has made the writing of this report an easier task!
The conference was opened at a Welcome Dinner for all delegates on Friday 30th October by San Antonio Councilman Roberto Trevino who declared the weekend to be “Acid Maltase Deficiency Association Conference Days”. The evening that followed was a fine spectacle remembering the 20 years of the AMDA.
Creating a conference programme suitable for both patient representatives and scientists can be very difficult, but the scientific presentations were carefully prepared with the non-specialist in mind, and their key points were certainly accessible to all delegates. And those delegates had travelled from all corners of the world to hear the latest developments in Pompe research and share their experiences with others.
The AMDA hope to have all video presentations available early in 2016, but until then here is a taste of the conference highlights:
Youtube video by Genzyme Corp., published April 08, 2015
(Original video size: 854x480px)
In 2014, the Pompe Registry recognized and celebrated an important milestone: the 10-year anniversary of the Registry. Started in 2004 and sponsored by Genzyme, a Sanofi company, the Pompe Registry was established as a global, voluntary, observational database to collect and report on the natural history and outcomes of patients with Pompe disease through routine clinical practice, regardless of patient treatment status. This video highlights the importance of the Registry through interviews with physicians in the field and patients with Pompe disease. (Source: https://www.youtube.com/watch?v=hnjzV7dkbhs)
The video includes statements of Pompe medical professionals and Pompe patients participating in the registry:
- Dr. Mark Roberts, UK
- Dr. Sharon Krueger, First Pompe Registry Patient
- Dr. Priya Kishnani, USA
- Dr. Mary-Alice Abbott, USA
- Dr. Edward Cupler, Saudi Arabia
- Dr. David Stockton, USA
- Prof. Antonio Toscano, Italy
- Prof. Juan Llerena, Brazil
- Abby Phelps, Pompe Registry Patient
- Prof. Ans van der Ploeg, The Netherlands
- Dr. Barry Byrne, USA
- Dr. Yin-Hsiu Chien, Taiwan
- Dr. Kenneth Berger, USA
- Prof. Wolfgang Müller-Felber, Germany
- Dr. Paula Clemens, USA
- Dr. Virginia Kimonis, USA
- Dr. Laura Case, USA
The Pompe Registry is an important program that Genzyme sponsors and administers. A disease registry contains medical information on patients with a specific condition, in a database that can be analyzed and used by physicians treating patients with the same condition. Registries have proven to be especially valuable in rare diseases like Pompe disease. Information submitted to the Pompe Registry will be maintained as confidential in accordance with applicable national privacy regulations and other state and local laws related to medical information. (Source: https://pompe.com/patients/pompe-registry.aspx)
- Information for patients on the Registry website: https://www.registrynxt.com/Home/For-Patients-and-Families
- Information about the objectives and other aspects of the Registry (for Healthcare Professionals): https://www.pompe.com/healthcare-professionals/pompe-registry.aspx
- Registration for Healthcare Professionals on the Registry website: https://www.registrynxt.com/Public-Registration
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.