International Survey on Pompe Disease and Covid-19
Over the last 2 years the COVID-19 pandemic has had wide reaching effects on people all over the world. To better understand the impact of the Covid 19 Pandemic on the worldwide Pompe community, the International Pompe Association and the Erasmus MC are undertaking a...
In Utero ERT Webinar
Title: In Utero EnzymeA protein that helps the body carry out chemical reactions. More Replacement Therapy for Lysosomal Storage DiseasesA group of diseases in which substances build up inside lysosomes because the body cannot break them... More
Date: Friday, September 16, 2022
Time: 1 PM / 2 PM ET
Speaker:
Jeniffer L. Cohen, MD, Assistant Professor of Pediatrics at Duke University
Webinar Overview:
Dr. Cohen will provide an overview of the importance of early treatment in lysosomal storage diseasesA group of diseases in which substances build up inside lysosomes because the body cannot break them... More, the principles, and methods behind in utero therapy, and will present data from the first patient with infantile onset Pompe diseaseA severe form of Pompe disease that begins in infancy and often affects the heart and muscles. More treated with in utero enzymeA protein that helps the body carry out chemical reactions. More replacement therapy.
2021 Helen Walker Grant for Pompe Disease Winner Announcement
The AMDA is excited to announce that the 2021 Helen Walker Grant for Pompe Disease was awarded to Dr. Peter Meinke and Dr. Benedikt Schoser for their Project entitled: "Generation of a platform for comparative testing of new treatments for people living with Pompe...
Aquatic Physical Therapy Webinar
Title: Aquatic Exercise: Applications for Pompe DiseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More
Date: August 26, 2022
Time: 1:30 PM CT / 2:30 PM ET
Speaker:
Dr. Kendra Lucas, PT, DPT, Aquatic Physical Therapist at Kettering Health, Ohio
Webinar Overview:
The unique properties of water provide surprising benefits for individuals struggling with gait difficulty, muscle weaknessA loss of strength that can affect movement, posture, and sometimes breathing. More, cardiorespiratory impairments, balance problems and other symptoms associated with Pompe diseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More. Aquatic physical therapy offers a safe alternative to land-based programs. The water’s buoyancy off-loads joint pressure, allowing you more freedom to move with less energy exertion. Join Dr. Lucas to learn much more about how aquatic exercise can help you stay active and healthy so you can live your best life.
Astellas Gene Therapies Press Release – Clinical Trial Update
"On June 26, 2022, Astellas Pharma, Inc. ("Astellas") issued a press release announcing that the U.S. Food and Drug Administration (FDA) has placed a clinical hold on the FORTIS Phase 1/2 clinical trial evaluating AT845 ("the investigational gene therapy candidate")...
Voice of the Patient Report for the Pompe PFDD is Released!
The AMDA is excited to report that the final Voice of the Patient Report for the Pompe Patient-Focused Drug Development meeting has been released. To view the report, please CLICK HERE!
Aro Biotherapeutics to Present New Preclinical Data
Aro Biotherapeutics to Present New Preclinical Data Highlighting the Potential of Centyrin-siRNA Conjugates for the Treatment of Pompe DiseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More. To read the article, please click here.
AMDA Zoom Webinar With Sanofi
Title: POMPE REGISTRY: 18 YEARS OF LEADERSHIP AND CONTRIBUTIONS
Date: Monday, April 11, 2022
Speaker:
Joseph Bender, MD, MBA, Global Head of Rare Disease Registries
Danielle Dong, ScM, CGC, Global Operations and Advocacy Lead Rare Disease Registries
Webinar Overview:
The Sanofi Genzyme Pompe Registry is a global, observational, and voluntary program designed to track natural historyThe way a disease changes over time without treatment, or as it is observed over time. More and outcomes of patients diagnosed with Pompe diseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More.
*After multiple conversations with Sanofi, the AMDA regrets to inform the Community that the recording of the recent AMDA Webinar on the Sanofi Pompe Registry will be removed from the AMDA website on May 31, 2022.
However, as a result of these conversations, the AMDA is pleased to say that Sanofi has committed to developing educational material regarding the Registry. We hope that this will be available soon, and will keep the Community posted on developments.
2022 PCMA Pull for Pompe Fundraiser
The AMDA is excited to announce that the 11th Annual PCMA’s Pull for Pompe will take place on Saturday, April 30, 2022 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...
2021 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 DiseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More research. This grant opportunity was made possible by the 2021 Pull for Pompe, a private fundraiser held by the Precast Manufacturer’s Association of Texas...
AMDA and Spark Webinar: Understanding Gene Therapy Research and the Potential Applications for Late Onset Pompe Disease
To watch the Webinar, please click here!
Re-Scheduled–Friday, Oct 8, 2021: AMDA and Spark Webinar: Understanding Gene Therapy Research and the Potential Applications for Late Onset Pompe Disease
Hi All, We are excited to announce that the webinar is on for Friday, October, 8, 2021 at 1 PM CST. If you have already registered, you don't need to do anything. If you have NOT registered yet, it's not too late! Please click here to register. And, don't forget, we...
FDA approves Sanofi’s Nexviazyme® (avalglucosidase alfa-ngpt) for Late-Onset Pompe
PARIS – August 6, 2021 - The U.S. Food and Drug Administration (FDA) has approved Nexviazyme® (avalglucosidase alfa-ngpt) for the treatment of patients one year of age and older with late-onset Pompe diseaseA form of Pompe disease that begins after infancy and usually progresses more slowly. More, a progressive and debilitating muscle disorder that impairs...
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. More 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 form of Pompe disease that begins after infancy and usually progresses more slowly. More 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.