September 2020 Pregnancy Outcomes in Late-Onset Pompe Disease
Pregnancy Outcomes in Late-Onset Pompe DiseaseA form of Pompe disease that begins after infancy and usually progresses more slowly. Life Download file
February 2021 Amicus’ AT-GAA Shows Clinically Meaningful & Significant Improvements in Both Musculoskeletal and Respiratory Measures
Amicus’ AT-GAA Shows Clinically Meaningful & Significant Improvements in Both Musculoskeletal and Respiratory Measures in Late-Onset 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. Compared to Standard of Care in Pivotal Phase 3 PROPEL Study. Amicus Therapeutics, Inc. Download file Download...
Phenotypic implications of pathogenic variant types in Pompe disease
Manuel A. Viamonte1,2 ● Stephanie L. Filipp3 ● Zara Zaidi4,8 ● Matthew J. Gurka3 ● Barry J. Byrne4 ● Peter B. Kang 1,5,6,7 Received: 25 January 2021 / Revised: 1 April 2021 / Accepted: 20 April 2021 © The Author(s), under exclusive licence to The Japan Society of...
Spark Therapeutics Announces First Participant Dosed in Phase 1/2 Study of Investigational Gene Therapy for Late-Onset Pompe Disease
First participant dosed in the RESOLUTESM trial, a Phase 1/2 dose-escalation study of SPK-3006 Enrollment of approximately 20 total study participants is ongoing PHILADELPHIA, February 1, 2021 (GLOBE NEWSWIRE)— Spark Therapeutics, a member of the Roche Group (SIX: RO,...
10th Annual PCMA Pull for Pompe!
The AMDA is excited to announce that the 10th Annual PCMA’s Pull for Pompe will take place on Saturday, April 4, 2020 at the National Shooting Complex in San Antonio, Texas! The Pull for Pompe clay shooting event is designed for all ages and ability levels. Please...
Dr. Priya Kishnani, an Informative Session on the Covid 19 Vaccine with Questions and Answers
Title: Informative Session on the Covid 19 Vaccine with Questions and Answers
Date: Thursday, January 14, 2021
Speaker:
Dr. Priya Kishnani
National Patient-Teacher Registry: A New Educational Concept
Title: National Patient-Teacher Registry: A New Educational Concept
Date: Wednesday, December 9, 2020
Speaker:
Mark Korson, PhD, VMP Genetics, LLC, Director of Physician Support, Director of Education
Webinar Overview:
In general, medical students and post-graduate trainees receive little teaching about metabolic disease. At VMP Genetics, we believe in the power of “patient-teaching” and are bringing patients and families into lectures and presentations – at conferences and in the classroom. While doctors talk facts, patients tell stories. Story-telling is a more compelling teaching method with better recall over time than didactic lecturing. We also believe that doctors are more likely to make a diagnosis if they have already seen a patient and hear her/his story. We are looking to collaborate in this effort with patient foundations and similar communitites.
Audentes Pompe Program Update
Audentes has released a Pompe Program Update. It includes information regarding FORTIS, their clinical trialA research study that tests new treatments or approaches in people. for gene therapyA developing treatment that aims to fix, replace, or add genetic instructions. for Pompe. To read the Pompe Program Update, please click here.
Spark Therapeutics Clinical Trial FAQ
Spark Therapeutics has developed a “Frequently Asked Questions” document regarding their RESOLUTE clinical trial. Please click here to read.
Patient Focused Drug Development Meeting—UPDATE
As everyone knows, due to the ongoing COVID-19 pandemic, the Patient-Focused Drug Development Meeting (PFDD) that was originally scheduled for March 09, 2020, was postponed. It has been moved to a Virtual Meeting that will take place Monday, July 13, 2020, from...
2020 PCMA Pull For Pompe!—Cancelled
Update: July 8, 2020 It is with great sadness and disappointment that we hereby announce the cancellation of the 2020 Pull For Pompe Shoot due to the on-going COVID-19 pandemic.When we initially postponed the Shoot to August 15, we had high hopes that the virus would...
AMDA Q and A with Dr. Priya Kishnani on COVID-19 and Pompe
With all of the questions and uncertainty surrounding the ongoing COVID-19 pandemic, the AMDA worked with Dr. Priya Kishnani and her group at Duke University on the following Question and Answer Fact Sheet. We hope that the Pompe Community will find the information...
Statement from Spark Therapeutics on COVID-19 and their Pompe Program
Dear IPA Board of Directors, As I’m sure you are aware, the World Health Organization (WHO) has declared a pandemic in response to the COVID-19 (SARS-CoV-2) outbreak. Given this serious health situation, the US Centers for Disease Control and Prevention (CDC)...
Statement from Amicus regarding COVID-19
Please click here to read a statement from Amicus Therapeutics regarding COVID-19.
10th Annual PCMA Pull for Pompe!
Announcement Regarding COVID-19 and the Pull for Pompe (03/18/2020): After careful consideration, and long discussions among the organizers; the 2020 PCMA Pull for Pompe has been postponed until Saturday, August 15, 2020. The Team of volunteers for The Pull For Pompe...
Upcoming Webinar: January 23, 2020
AMDA WEBINAR Title: The common c.-32-13T>G splicingA normal step in how the body reads gene instructions. If splicing goes wrong, the wrong protein may be made. variant of GAA geneThe gene responsible for making the GAA enzyme.: from functional characterization to the identification of new therapeutic targets for Pompe disease. Date: January 23, 2020 Time: 9:30am PT, 11:30am CT, 12:30pm ET Register Now: ...
2019 AMDA/IPA Conference Report Available
On October 25-27, 2019, almost 200 Pompe patients and their families, scientists, doctors, and industry representatives from around the world gathered in San Antonio, Texas for the 2019 AMDA/IPA Pompe Patient and Scientific Conference. Over the course of this...
Patient Focused Drug Development Meeting to be held March 09, 2020
The AMDA is excited to announce that it is partnering with the MDA to host a Patient Focused Drug Development Meeting (PFDD) on March 09, 2020. The PFDD meeting is an opportunity for patients and families living with Pompe disease to share their perspective and inform...
The Common C.-32-13T G Splicing Variant of GAA Gene
Title: The common c.-32-13T>G splicing variant of GAA gene: from functional characterization to the identification of new therapeutic targets for Pompe disease.
Speaker:
Andrea Dardis, PhD
2019 Helen Walker Research Grant For Pompe Disease Now Accepting Applications
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 the 2019 Pull for Pompe, a private fundraiser held by the Precast Manufacturer’s Association of Texas...