Hello guys, welcome back! Since you all are already quite familiar with the disease we will not be posting anymore information on the mechanism of Pompe but instead we will be posting some extra information on Pompe. So today I will be giving some updates on Pompe disease :D
On 15 April 2014, the International Pompe Association (IPA) celebrated its first annual International Pompe Day. The purpose of this day is to raise awareness of the disease and the treatments, to encourage screening of the disease for infants and also for fundraising. There were a string of activities lined up for International Pompe Day which includes an art contest and a photo gallery. Individuals with Pompe disease and their family members also raised awareness of this day through the use of social media such as Facebook by changing their profile pictures to that of the International Pompe Day picture and they even encouraged their friends to do so! A commemorative book was also set up by the Acid Maltase Deficiency Association specially for this day which captures the events that took place with regards to International Pompe Day. So remember, every year on 15 April is International Pompe Day!! Don't forget to show your support!! :D
On 27 May 2014, BioMarin Pharmaceutical Inc. dosed their first patient with BMN 701 in the phase III INSPIRE trial for Pompe disease. Huh???? What are you talking about? Alright let me explain further. Basically, BMN 701 is a GILT-tagged Recombinant Human GAA which consist of an insulin like growth factor 2 fused with acid alpha glucosidase. In the phase III INSPIRE trial, an experiment is being caried out to assess if BMN 701 is beneficial for late-onset Pompe patients. Thus, on the day of 27 May 2014, the company that is involved in this trial had given the first patient the trial drug. The Pompe community will be looking forward to the results of this trial. If successful, Pompe patients will have another treatment available to them :D So lets hope for the best outcome for the trial!
Another great news for the Pompe community is that research has found out that a combination of cancer-treatment drugs can help in the treatment of Pompe disease. In the treatment of Pompe, the recombinant human GAA enzyme (myozyme) is injected into the child patient. However, some children will produce an immune response to the enzyme, preventing the enzyme from taking effect. As a result, the patients died. The good news is that now research has found out that a combination of cancer-treatment drugs actually suppress this immune response. This allows myozyme to take effect in patients which are producing the immune response and thus saving their lives! The results of this research has improved the lives of some children who suffer from the immune response, and hopefully more children will stand to benefit from it too in time to come.
There are a few more updates on Pompe which you can look up on the Internet if you are interested, but that's all I have for now. See you soon!! :))
References:
http://amdapompe.ehclients.com/downloads/news/BMN_701_First_Dose_Press_Release_FINAL_5-22-14.pdf
http://www.amda-pompe.org/index.php/main/news/amda_to_celebrate_first_international_pompe_day
http://www.news-medical.net/news/20120106/Combination-of-cancer-drugs-shows-promise-against-Pompe-disease.aspx
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