2013 PCMA of Texas’s Pull for Pompe set for April 20, 2013!
The PCMA of Texas invites you to enjoy a day of family fun benefitting Acid Maltase Deficiency, also known as Pompe DiseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup that damages muscles and can affect breathing and, in some cases, the heart.. This event is designed for all ages and ability levels. It will be held at the National Shooting Complex in San Antonio, Texas. Please click...
2012 AMDA Research Grant Awarded
The AMDA is excited to announce that the 2012 AMDA Research Grant Recipient is Dr. Nuno Raimundo of the University of Goettingen in Germany for his Project: “MitochondriaParts of the cell that produce energy. and AutophagyThe cell's internal cleanup system that removes damaged or unneeded material. as Therapeutic Targets for Acid Maltase Deficiency.” LysosomesA small part of the cell that acts like a recycling center, helping break down waste materials. are responsible for...
Amicus Announces Positive Results from Phase 2 Chaperone-ERT Co-Administration Study
CRANBURY, NJ, January 4, 2013 – Amicus Therapeutics today announced positive preliminary results from all 4 dose cohorts in a Phase 2 study (Study 010) to evaluate the safety and pharmacokinetic (PK) effects of the pharmacological chaperone AT2220 (duvoglustat HCl)...
Amicus Therapeutics Announces First Patient in Phase 2 Study for Pompe Disease
AT2220 Co-Administered with EnzymeA protein that helps the body carry out chemical reactions. Replacement Therapy Second Phase 2 Pharmacological Chaperone-ERT Co-Administration Study CRANBURY, NJ, US, December 1, 2011 – Amicus Therapeutics, a biopharmaceutical company at the forefront of developing therapies for rare...
Pompe Community Loses Valued Advocate
On the 30th November 2012, Helen Walker OAM (Member of the Order of Australia) passed away. Helen was a board member of the International Pompe Association (IPA) and President of the Australian Pompe’s Association. Helen passed away at the age of 72 after having...
News 2012 AMDA/Genzyme Patient Diagnosis Survey Results
The path to diagnosis can be long and complicated and patients are frequently misdiagnosed along the way. In an effort to improve diagnostic accuracy, the AMDA and Genzyme collaborated on a questionnaire project in the first-quarter of 2012. The goal of the...
News Dr. Arnold Reuser Decorated by Queen of Netherlands
On Thursday, August 30, 2012 Dr. Arnold Reuser was decorated as a Knight in the Order of the Netherlands Lion by decree of Queen Beatrix of the Netherlands. The decoration was presented at the conclusion of the “Passion for Pompe” Program at the Arminius Church in...
2012 AMDA Research Grant
The AMDA is excited to announce a research grant opportunity for applicants who are involved in Pompe Disease research. This grant opportunity was made possible by a fundraiser hosted by the Precast Manufacturer’s Association of Texas (PCMA of Texas) aimed at...
2012 PCMA Pull for Pompe Fundraiser Results
I am very excited to announce that the 2012 PCMA’s Pull for Pompe was a HUGE success. The PCMA of Texas (www.pcmatexas.org) raised almost $90,000.00 for Pompe Disease Research through its annual skeet-shooting fundraiser! Please click here for PCMA of Texas’s...
BioMarin Pompe Program Update
May 13, 2012—Program Update from BioMarin. For more information about the BioMarin trials please contact Sean McCarthy of BioMarin at: smccarthy@bmrn.com. The AMDA is also available to help answer any questions or concerns. Please contact Tiffany House or Marsha...
Alternatives to Organ Donation—Editorial by a Late-Onset Pompe Patient
By: --A Late-onset Pompe patient posted on: May 14, 2012 Something to think about…... A cause that is very near and dear to my heart is organ donation. I have a close relative that under went a kidney transplant a few years ago that saved his life. I have the belief...
News 2011 AMDA/IPA Conference DVDs available!
Order your 2011 AMDA/IPA Conference DVD Today! This set of DVDs includes all of the presentations and Question and Answer Sessions on October 8-9th, 2011. To order your DVDs, please send an email with your mailing address and the number of copies you would like to...
Needle Core Muscle Biopsy
Download an audio only version
March 2012 Community Update From Genzyme Regarding 160L Myozyme Supply
March 19, 2012 Community Update for Pompe Families in the United States who Utilize Myozyme® (alglucosidase alfaA form of enzyme replacement therapy used to treat Pompe disease by providing a lab-made version of the GAA enzyme.) Produced at the 160 L Manufacturing Scale Download complete article
Needle Core Muscle Biopsy
Title: Needle Core Muscle Biopsy
Date: Wednesday, March 7, 2012
Speaker:
Mark Tarnopolsky, MD, PhD, FRCP (C)
Webinar Overview:
Traditionally most Neuromuscular Clinics have used an open muscle biopsy for pathological diagnosis. Many Neuromuscular Specialists and Neuropathologists have avoided the use of a needle biopsy technique due to small sample size. The UCH needle has a port on the side to apply suction and this definitely increases the yield several fold. There are several strategies to apply suction to the Bergstrom needle and we will describe custom modifications that we have found to yield excellent sample size. The advantages of the needle biopsy technique are; much smaller scar, very high safety profile; adequate tissue size; ability to perform the biopsy within ten minutes in the clinic; and the ability to sample several different muscles that is a function of the EMG and/or clinical examination. This presentation will go over the needle muscle biopsy technique using either the UCH or Bergstrom muscle biopsy needle for research and patient diagnosis.
2012 PCMA Pull for Pompe Fundraiser
PCMA of Texas invites you to enjoy a day of family fun benefiting Acid Maltase Deficiency, also known as Pompe Disease. This event is designed for all ages and ability levels. The 2012 Pull for Pompe will take place on Saturday, April 21, 2012 at the National...
NMR Imaging And Spectroscopic Techniques For Diagnosis, Follow Up And Evaluation Of Pompe Disease
Title: NMR Imaging (MRI) and spectroscopic (NMRS) techniques for diagnosis, follow up and evaluation of Pompe disease
Date: Tuesday, January 24, 2012
Speakers:
Robert-Yves Carlier, MD
Pascal Laforêt, MD
David Orlikowski, MD, PhD
Claire Wary, PhD
Webinar Overview:
Utility of whole body MRI in the diagnosis of Pompe disease, utility of 3T MRI and volumetric evaluation of muscular impairment in the follow-up of patients before and during ERT and utility of glycogenA stored form of sugar used for energy. quantitation by Carbon 13 NMR spectroscopy.
Announcement Regarding 160 liter Myozyme Supply
As some of you are probably aware, Genzyme has announced that, due to production and supply constraints, starting March 30, 2012 the 160 liter Myozyme (which is ONLY used in the United States) will no longer be shipped to patients over the age of 12 months. This ONLY...
Conference Report Available for 2011 AMDA/IPA Patient and Scientific Conference
2020AOn October 7-9, 2011, 150 Pompe patients and their families, scientists, doctors, and industry representatives from around the world gathered in San Antonio, Texas for the 2011 AMDA/IPA Pompe Patient and Scientific Conference. Over the course of this weekend,...
BioMarin Receives Orphan Drug Designation from FDA for Pompe Disease
Excerpt from August 30, 2010 press release . . . BioMarin Pharmaceutical Inc. (Nasdaq: BMRN) announced today that it has received orphan drug designation from the U.S. Food and Drug Administration (FDA) for BMN-701, a novel fusion of insulin-like growth factor 2 and...