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 alfa) 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 glycogen 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...
Support for Proposed Legislation in California Regarding Prior Authorization
Hi All, The AMDA has been working with Pfizer on supporting some proposed legislation in California that is intended to streamline the process to get prior authorization of medication. The proposed Bill is SB 866. This Bill could be taken up by the House and Senate...
News August 2010 Pompe Program Update from Genzyme
Genzyme would like to provide an update to the US Pompe community regarding the transition to commercial LumizymeTM (alglucosidase alfa) from the ATAP (Alglucosidase Alfa Temporary Access Program) in the United States. As a reminder, Lumizyme was approved by the US...
2011 AMDA Pompe Disease Research Grant Opportunity
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 aimed at promoting research into Pompe Disease. If you are interested in this opportunity,...
AMDA 2010 Research Grant Opportunity
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 private fundraiser aimed at promoting research into Pompe Disease. If you are interested in this...
Respiratory Muscle Strength Training In Pompe Disease
Title: Respiratory Muscle Strength Training in Pompe Disease
Date: Monday, June 6, 2011
Speaker:
Harrison N. Jones, PhD, BRS-S, CCC-SLP, Assistant Professor, Department of Surgery, Division of Speech Pathology & Audiology, Duke University
Upcoming Event: Respiratory Muscle Strength Training in Pompe Disease Webinar
On June 6, 2011 the AMDA will host a webinar on Respiratory Muscle Strength Training in Pompe disease at 12:00pm (ET); 11:00am (CT); 10:00am (MT); 9:00am (PT). The Guest Speaker is: Harrison N. Jones, PhD, BRS-S, CCC-SLP, Assistant Professor, Department of Surgery,...
PCMA of Texas hosting “Pull for Pompe” Fundraiser
PCMA of Texas invites you to enjoy a day of family fun benefitting Acid Maltase Deficiency, also known as Pompe Disease. This event is designed for all ages and ability levels. Proceeds from the event will go to the Acid Maltase Deficiency Association (AMDA). For...
Cincinnati Children’s Hospital Study on Speech, Language and Swallowing Problems
Cincinnati Children’s Hospital is conducting a study about the speech, language and swallowing problems in infants and children with Pompe disease. The study involves a survey which can be completed online that asks a variety of questions about the speech, language...
Genzyme’s Next Generation Pompe Treatment: Clinical Development Overview
Title: Genzyme’s Next Generation Pompe Treatment: Clinical Development Overview
Date: Thursday, February 3, 2011
Speakers:
Edward Kaye, MD
Alison McVie-Wylie, PhD
AMDA Webinar on Genzyme’s Next Generation Pompe Treatment: Clinical Development Overview
The AMDA is hosting yet another webinar for the Pompe community on Feb 3, 2011. Title: Genzyme’s Next Generation Pompe Treatment: Clinical Development Overview Date: Thursday, February 3, 2011 Time: 8:00 pm (ET); 7pm (CT); 6pm (MT); 5pm (PT) Guest Speakers: Edward...