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Amicus Therapeutics Commences Phase 1/2 Study of Novel ERT for Treatment of Pompe Disease
CRANBURY, N.J., Dec. 22, 2015 (GLOBE NEWSWIRE) -- Amicus Therapeutics (Nasdaq:FOLD), a biopharmaceutical company at the forefront of rare and orphan diseases, today announced that its investigational new drug (IND) application, submitted to U.S. Food and Drug Administration (FDA), is now effective which allows Amicus to begin site initiation and enrollment of a Phase 1/2 study of ATB200 in patients with Pompe disease. Amicus intends to seek regulatory authorization to evaluate ATB200 in European patients as well. This novel enzyme replacement therapy (ERT) consists of a uniquely engineered recombinant human acid alpha-glucosidase (rhGAA) enzyme with an optimized carbohydrate structure, administered in combination with a small molecule pharmacological chaperone (AT2221). In preclinical studies, ATB200 was associated with increased tissue enzyme levels and reduced substrate, which was further improved when AT2221 was co-administered with ATB200...
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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: