Title: Aquatic Exercise: Applications for Pompe Disease
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 weakness, cardiorespiratory impairments, balance problems and other symptoms associated with Pompe disease. 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.

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 history and outcomes of patients diagnosed with Pompe disease.

*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.

Title: Informative Session on the Covid 19 Vaccine with Questions and Answers
Date: Thursday, January 14, 2021
Speaker:
Dr. Priya Kishnani

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.

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

Title: Spark Therapeutics Gene Therapy Research Webinar
Date: Tuesday, September 25, 2025
Speakers:
Federico Mingozzi, PhD – Chief Scientific Officer
Paul Monahan, MD – Translation Medicine Leader, Metabolic Disorders
Amy Fisher, MS, CGC – Patient Advocacy Lead
Webinar Overview:
Take this opportunity to learn more about Spark as a company and the field of gene therapy research.

Title: Design and Performance of Clinical Trials: An Overview
Date: Monday, October 20, 2014
Speaker:
Anne Zajicek, MD, PharmD, FAAP, Chief, Obstetric and Pediatric, Pharmacology and Therapeutics Branch, National Institute of Child Health and Human Development (NICHD)

Title: The contribution of the IPA survey to our understanding of the natural course of Pompe disease and effects of enzyme therapy: Ten years of the IPA survey
Date: Thursday, February 27, 2014
Speaker:
J.C. van der Meijden, Center for Lysosomal and Metabolic diseases, Erasmus MC University Medical Center, Rotterdam, the Netherlands
Webinar Overview:
For more than ten years Pompe patients, from all over the world, participate in the International Pompe Association / Erasmus MC Pompe survey on a yearly basis. During this period we have gathered a vast amount of information on the natural course of Pompe disease and the effects of enzyme replacement therapy. During this webinar we will discuss what we have learned about Pompe disease by working with the Survey. Furthermore, we will discuss the importance of the survey and goals for the future. At the last part of the webinar there is an opportunity for participants to ask questions to the researchers.

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.

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.

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

Title: Genzyme’s Next Generation Pompe Treatment: Clinical Development Overview
Date: Thursday, February 3, 2011
Speakers:
Edward Kaye, MD
Alison McVie-Wylie, PhD

Title: BMN-701: Potentially more effective treatment option for Pompe
Date: Monday, December 13, 2010
Speaker:
Barbara Wuebbels, BioMarin
Jon Lebowitz, BioMarin

Title: Diaphragm Delivery of Recombinant Adeno-Associated Virus Acid Alpha-Glucosidase (rAAV1-CMV-GAA) Gene Vector in Patients With Pompe Disease
Date: Tuesday, October 26, 2010
Speaker:
Barry J Byrne, MD, PhD – University of Florida

Title: Autophagy and it’s Role in Pompe Disease
Date: Wednesday, August 4, 2010
Speakers:
Nina Raben, MD, PhD – Staff Scientist, Arthritis + Rheumatism Branch, National Institute of Arthritis + Musculoskeletal + Skin Diseases (NIAMS), National Institutes of Health, Bethesda, MD.]