The AMDA Webinar Program facilitates the exchange of information between the Pompe patient community and professionals that have expertise in the field.



More educational webinars COMING SOON!!!


Astellas Gene Therapies Webinar: Evaluating therapies for Pompe disease - clinical trial goals and assessments

Astellas Gene Therapies Webinar

Title: Evaluating gene therapies for Pompe disease – clinical trial goals and assessments

Date: Monday, February 26, 2024


Jordi Díaz-Manera, MD, PhD

Christine S. Brown

Mark Walzer, PhD

Webinar Overview:

This Astellas Gene Therapies presentation provides an overview of the different gene therapy approaches for late-onset Pompe disease (LOPD) currently under evaluation in clinical trials, including liver-directed, central nervous system (CNS)-directed, and muscle-directed. The speakers will explain how clinical trials help determine whether a potential gene therapy is a viable treatment option for people living with LOPD. They will also help the audience understand the goals of clinical trials and the assessments that measure those goals.

Speaker Bios:

Jordi Díaz-Manera, MD, PhD – Professor of Neuromuscular Diseases at Newcastle University

Dr. Jordi Díaz-Manera is a Professor of Neuromuscular Disorders, Translational Medicine and Genetics at Newcastle University. His research has focused on understanding the process of muscle degeneration and regeneration in people living with neuromuscular diseases, including Pompe disease, and developing new diagnostic tools and therapies for muscle diseases.

Pompe Disease is one of Professor Díaz-Manera’s main interests. His findings have helped improve its diagnosis, he has contributed to the development of treatment guidelines for the disease and is a member of the Steering Committee of the European Pompe Consortium (EPOC).

Professor Díaz-Manera has received a fee from Astellas for his time spent preparing for and participating in this webinar.

Christine S. Brown – Associate Director, Patient Partnerships, Patient Centricity at Astellas

Christine S. Brown’s role at Astellas is focused on building trusted relationships with patient communities to support improved patient outcomes. Christine has worked on all sides of medicines development, including the Global Genes RARE-X research program, the Pfizer Rare Disease Research Unit, and as the Executive Director of the National PKU Alliance. Christine is passionate about bringing patient experiences to clinical trail design.

Christine was a member of the FDA Patient Engagement Collaborative and a subcommittee member of the Secretary’s Advisory Council on Heritable Disorders in Newborns and Children. She also received the 2021 Rare Voice Award for federal patient advocacy from the Everylife Foundation.

Mark Walzer, PhD – Director, Clinical Development at Astellas Gene Therapies

Dr. Mark Walzer has worked in pharmaceutical clinical research and development for nearly 20 years and currently leads clinical development activities for Astellas Gene Therapies programs. Mark joined Astellas in 2013, focusing on biomarker and early-stage clinical development for small molecules and biologics in the Neuroscience, Pain and Infectious Diseases areas. More recently, he has been directing clinical strategy to support multiple early-stage AAV-based gene and cell therapy programs in Ophthalmology and metabolic muscle disorders, including Pompe disease.  Prior to his time at Astellas, Mark lead various nonclinical and clinical research activities at Ovation Pharmaceuticals and Lundbeck focusing on rare diseases in the Neuroscience space.

To view webinar, CLICK HERE!

Ask Bio Webinar: Development of Gene Therapy for Pompe Disease

Ask Bio Webinar

Title: Development of Gene Therapy for Pompe Disease: Recent History

Date: Tuesday, November 7, 2023

Time: 1 PM CT, 2 PM ET


Dr. Dwight Koeberl

Webinar Overview:

Dr. Koeberl will discuss the rationale for gene therapy for Pompe Disease. He will provide a summary of research focused on clinical development of gene therapy with a focus on potential risks versus benefits, as well as expectations regarding the clinical use of gene therapy.

Speaker Bio:

Dr. Koeberl joined the Division of Medical Genetics in Pediatrics at Duke University in 1999. His group has developed new  gene therapy and genome editing for glycogen storage diseases, including von Gierke Disease and Pompe Disease. In January 2019 the Division initiated a clinical trial of gene therapy for Pompe Disease.

To view  Webinar, CLICK HERE!

Boston Children's Hospital Webinar: Defining Central Nervous System Abnormalities

Boston Children’s Hospital Webinar

Title: Defining Central Nervous System Abnormalities in Infantile and Late-Onset Pompe Disease Patients

Date: Tuesday, October 17, 2023

Time: 1 PM CT, 2 PM ET


Raquel van Gool

Jaymin Upadhyay

Webinar Overview:

In this presentation, we will provide a short description of neurological signs and symptoms that have been reported in patients with Infantile- or Late-Onset Pompe Disease (IOPD/LOPD). We will describe our comprehensive approach toward understanding the neurobiological abnormalities in IOPD/LOPD. Finally, we will share preliminary findings from ongoing studies involving patients with IOPD/LOPD and that are taking place at Boston Children’s Hospital.

Speaker Bios:

Raquel van Gool is a researcher and PhD Candidate at the department of Anesthesiology, Critical Care and Pain Medicine at Boston Children’s Hospital and School for Mental Health and Neuroscience at Maastricht university of the Netherlands. She completed a bachelor’s program in Psychology followed by a research master’s program in Cognitive and Clinical Neuroscience with a specialization in pharmaceutical development, during which she worked for several months with Boston Children’s Hospital researching neuropathic conditions and lysosomal storage diseases. Raquel’s current work focuses on the characterization of neurological manifestations of lysosomal storage diseases, particularly in Pompe Disease and Niemann-Pick disease Type C, as member of Dr. Jaymin Upadhyay’s research team.

Jaymin Upadhyay is a translational medicine scientist with over 15 years of experiences in the neurosciences. In 2018, Dr. Upadhyay returned to academia after spending eight years in the pharmaceutical industry. Throughout his career, he has led, or co-led multitude of investigations aimed at (i) validating new drug targets, (ii) validating novel preclinical or clinical methodologies, and (iii) translating preclinical research findings into early phase, clinical trials. Across translational biomarker studies, Dr. Upadhyay has utilized his background in neuroimaging physics and systems neuroscience and integrated this knowledge base with expertise in drug discovery and development. At Boston Children’s Hospital, he serves as the principal investigator for clinical studies evaluating central manifestations in patients with lysosomal storage diseases such as Infantile- and Late-Onset Pompe Disease and Niemann-Pick disease type C.

To view webinar, CLICK HERE!

Erasmus Webinar: Lentiviral Gene Therapy

Erasmus Webinar: Lentiviral Gene Therapy

Title: Lentiviral gene therapy for Pompe Disease

Date: Tuesday, October 10, 2023

Time: 10 AM CT, 11 AM ET


Dr. Pim Pijnappel, Associate Professor in Cell and Gene Therapy at the Erasmus MC University Medical Center, Rotterdam, the Netherlands.

Webinar Overview:

The webinar will start with an introduction on Pompe disease with the latest information on what we know of the disease and what the current challenges are for treatments. Then, the
concept of gene therapy will be explained as a possible new treatment option. The focus will be on lentiviral gene therapy, which is 1 of many possible forms of gene therapy. Recent
results from the laboratory will be presented, followed by an update on next steps toward clinical development. The current landscape of new therapies for rare diseases will be
discussed, including the need to develop novel therapies for reasonable and transparent prices.

Speaker Bio:

Dr. W.W.M. Pim Pijnappel is associate professor at the Erasmus MC and has a broad expertise ranging from basic to clinical science. He performed his PhD research at the
Hubrecht Laboratory (Utrecht, the Netherlands), and post-doctoral research at the EMBL Heidelberg and TU Dresden (Germany). His research group at the Center for Lysosomal and
Metabolic Diseases at Erasmus MC in Rotterdam, the Netherlands, focuses on basic, translational, and clinical aspects of lysosomal storage disorders including Pompe disease
and Hunter syndrome. The aim of his research is to obtain a better understanding of disease mechanisms, to develop novel treatment options, and to understand genotype/phenotype
relationships. He has published >80 peer reviewed scientific articles and holds 11 patents on therapies and biomedical technology.

To view webinar, CLICK HERE!

Spark Therapeutics Webinar: Trial Expectations

Spark Therapeutics Webinar: Trial Expectations

Title: Spark Therapeutics Webinar: Trial Expectations – What to Expect

Date: Wednesday, September 27, 2023

Time: 1 PM CT, 2 PM ET


Jacose Bell

Webinar Overview:

This presentation, developed by Spark Therapeutics, takes audience members through the introductory science of AAV gene therapy. We will examine how AAV theoretically works in a liver-directed approach, how that is different from other investigational forms of cell and gene therapy, and what the challenges and potential risks are with AAV gene therapy. The presentation will then focus the remainder of its time on the role of clinical research and things people should consider if they are interested in participating in clinical research for investigational gene and cell therapies.

Speaker Bio:

Jacose Bell is Sr. Patient Advocacy Lead at Spark Therapeutics. Jacose joined Spark in April of 2021, and has had the privilege of supporting relationships and partnership with the greater Pompe community ever since. Jacose is passionate about raising awareness and providing education about AAV gene therapy as part of that role.

To view webinar, CLICK HERE!

How to Manage LOPD Patients Diagnosed Through NBS

How To Manage LOPD Patients Diagnosed Through NBS

Title: New insights into Pompe disease since the advent of NBS

Date: Thursday, August 10, 2023

Time: 1 PM CT, 2 PM ET


Dr. Priya Kishnani, MD

Erin Huggins, MS, CGC

Webinar Overview:

An overview of the lessons learned from newborn screening for Pompe disease and its impact on disease management.

Speaker Bios:

 Dr. Priya Kishnani, MD

Dr. Priya Kishnani, MD, is Chief of the Division of Medical Genetics in the Department of
Pediatrics, and Professor of Molecular Genetics and Microbiology at Duke University Medical
Center. She holds certifications from the American Board of Medical Genetics and the American
Board of Biochemical Genetics. She holds numerous appointments at Duke University Medical
Center, serving as Director of the Glycogen Storage Disease Clinical and Research Program,
Director of Clinical Trials, and Director of the YT and Alice Chen Center for Genomic Research
and of the Metabolic Clinic.
Her passion is to establish the highest quality of care and treatment by understanding the
emerging natural history of individuals through investigator-initiated studies and clinical
research trials with a focus on glycogen and lysosomal storage disorders. She has published
extensively on these conditions, through research publications, textbooks, and scientific reviews.
Dr. Kishnani was involved in the clinical development of alglucosidase alfa for the treatment
Pompe disease (PD), resulting in its US Food and Drug Administration (FDA) approval in 2006,
and in the development of avalglucosidase alfa-ngpt as a second-generation
enzyme treatment, which was approved by the FDA in 2021. She also focuses on next-generation
therapies such as gene therapy and other modalities to treat PD.
As well as having an interest in long-term complications of PD, Dr. Kishnani and her team at
Duke University played an integral role in the nomination and approval for the addition of PD to
the Recommended Uniform Screening Panel for newborn screening in the United States in 2015.

Erin Huggins, MS, CGC

Erin Huggins is a board-certified genetic counselor at Duke University in the Division of
Medical Genetics, Department of Pediatrics. She received her B.S. in Biology from Coastal
Carolina University in 2016 and her M.S. in Genetic Counseling from the University of South
Carolina in 2018. She provides clinical genetic counseling for patients across the lifespan with a
variety of inherited diseases including glycogen storage diseases, lysosomal storage diseases, and
other inborn errors of metabolism. In addition to her clinical role, Erin is a member of Dr. Priya
Kishnani’s research team and is involved in a number of research activities related to metabolic
disease. Her primary areas of interest are newborn screening for Pompe disease and clinical
variant interpretation in rare diseases. Erin is originally from Charleston, SC, and currently
resides in Durham, NC.

To view the webinar, CLICK HERE!

The Value of Patient Reported Outcomes & When A Hospital and A Patient Organization Work Together

The Value of Patient Reported Outcomes & When A Hospital and A Patient Organization Work Together


Title: The Value of Patient Reported Outcomes: The Patients’ Voice

Date: Tuesday, March 28, 2023

Time: 1 PM CT, 2 PM ET


Nadine van der Beek, MD, PhD

Speaker Bio:

Dr. Nadine van der Beek is an assistant professor and consulting neurologist at the department of Neurology / Center for Lysosomal and Metabolic Diseases of the Erasmus MC University Medical Center. As a neurologist, she is involved mainly in the care of children and adults with neuromuscular diseases. She completed her training in neurology in Rotterdam, and for her further specialization in neuromyology she worked for several months at the Hôpital Universitaire Pitié-Salpêtrière in Paris.

Nadine’s current scientific work focusses on the long-term effects of enzyme-replacement therapy in children and adults with Pompe disease, and the development and validation of new outcome measures. She is also involved in the translational research into the development of AON and lentiviral gene-therapy for Pompe disease. She has participated in several clinical trials in Pompe disease, and other neuromuscular diseases.

Nadine is an active member of the European Pompe Consortium (EPOC), leading the work-package on patient-reported outcomes (PROs), and has participated in several industry advisory boards. Furthermore, she is a co-chair of the muscle working group of the European Reference Network for neuromuscular diseases (Euro-NMD).

Webinar Overview: 

In this presentation, Dr. Nadine van der Beek will highlight the additional value of patient-reported outcomes to traditional outcomes such as walking distance or pulmonary function. She will show some important results from the IPA/Erasmus MC Pompe survey, which has existed since 2002, and discuss some important issues such as fatigue and quality of life. And as a last point, she will also address the development of a Pompe-specific questionnaire which is able to measure patients’ abilities in daily living.


Title: When A Hospital and A Patient Organization Work Together

Date: Tuesday, March 28, 2023

Time: 1 PM Ct, 2 PM ET


Muady Theunissen, MD

Speaker Bio:

Maudy Theunissen is a physician researcher and PhD candidate at the Center for Lysosomal and Metabolic Diseases of the Erasmus MC University Medical Center. She focusses on research into the mechanisms that underlie the differences in response to enzyme replacement therapy in adults with Pompe disease. By combining clinical data and patient reported outcomes she hopes to improve and personalize treatment. Besides research, she is involved in the care of adults with Pompe disease in the Netherlands.

Webinar Overview:

In this presentation I will show some more important results from the IPA/Erasmus MC Pompe Survey: what have we learned from patient-reported outcomes and why is this important? I will show what we have changed recently to improve the Pompe Survey and will provide information on how to participate. I will also address the first results of another collaboration between the Erasmus MC University Medical Center and the International Pompe Association (IPA): a questionnaire-based study on the impact of COVID-19 infection(s), the pandemic and associated control measures on patients with Pompe disease worldwide.

To view the Webinar, CLICK HERE!

Insurance 101 Webinar

Insurance 101 Webinar

Title: Insurance 101: Learning the Basics

Date: Tuesday, December 13, 2022

Time: 1 PM CT, 2 PM ET


Amy DeStefanis, LCSW, CCM

Speaker Bio:

Amy DeStefanis, LCSW, CCM is a Principal Case Manager with Sanofi Specialty Care, and is a licensed certified social worker and certified case manager. She enjoys working with patients and providers to help individuals and families affected by lysosomal storage disorders gain access to care, treatment, resources, and support. Amy lives and works in Boston, Massachusetts, and has been a case manager with Sanofi for almost 5 years, working with patients living in North Carolina.


Webinar Overview: 

Insurance 101 will guide the participants through a discussion of the main types of health insurance coverage, types of health insurance plans, things to consider when choosing a plan, open enrollment, qualifying events and will also highlight CareConnect Patient Support Services program, along with our resources and support.

To view webinar, CLICK HERE!

In Utero ERT Webinar

In Utero ERT Webinar*

Title: In Utero Enzyme Replacement Therapy for Lysosomal Storage Diseases

Date: September 16, 2022

Time: 1 PM CT, 2 PM ET


Jennifer L. Cohen, MD, Assistant Professor of Pediatrics at Duke University

Speaker Bio:

Jennifer L. Cohen, MD is an Assistant Professor of Pediatrics in the Division of Medical Genetics at Duke University. She attended Yale College and then received her MD from the Icahn School of Medicine at Mount Sinai in NYC. She completed a combined residency program at the Children’s Hospital of Philadelphia in pediatrics and medical genetics, before joining the faculty at Duke in 2019. Her research interests and expertise are in perinatal genetic medicine with a current focus on earlier diagnosis and management of rare genetic diseases. She is actively involved in the Pompe disease gene therapy trials at Duke. Her long-time research interests and training have led her to pursue the study of in utero treatment for lysosomal storage diseases and to pursue implementation of more rapid and comprehensive neonatal diagnostic testing in critically ill infants.


Webinar Overview: 

Dr. Cohen will provide an overview of the importance of early treatment in lysosomal storage diseases, the principles, and methods behind in utero therapy, and will present data from the first patient with infantile onset Pompe disease treated with in utero enzyme replacement therapy.

* Note: The webinar cannot be recorded since the research data is unpublished. Jennifer’s collaborators have requested that it not be recorded.

To download a summary of the webinar: Click Here!

To view a similar webinar by UCSF: Click Here!

Aquatic Physical Therapy Webinar

Title: Aquatic Exercise: Applications for Pompe Disease

Date: August 26, 2022;

Time: 1:30 PM CT, 2:30 PM ET


Dr. Kendra Lucas, PT, DPT, Aquatic Physical Therapist at Kettering Health, Ohio

Speaker Bio:

Dr. Kendra Lucas, PT, DPT is an Aquatic Physical Therapist at Kettering Health in Ohio. She specializes in the treatment of chronic pain and management of chronic and genetic conditions. Dr. Lucas is excited to share her success stories utilizing aquatic exercise in the treatment of Pompe disease.

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.

To view the webinar, Click Here!

To download a pdf of the exercises presented in this webinar, Click Here!

To download a pdf of the slideshow presented in this webinar, Click Here!

AMDA Zoom Webinar With Sanofi


Date: April 11, 2022

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.

Please contact the AMDA at if you have any questions.

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: January 14, 2021

Dr. Priya Kishnani

To watch Webinar, PLEASE CLICK HERE.

National Patient-Teacher Registry: A New Educational Concept

Posted on: February 10, 2020 – Filed under

Title:  National Patient-Teacher Registry: A New Educational Concept

Date: December 9, 2020

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 communities.

To watch Webinar, PLEASE CLICK HERE.

Dr. Dardis' Webinar on GAA gene

Posted on: February 10, 2020 – Filed under

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.

Andrea Dardis, Ph.D.

Speaker Biography:

Dr. Andrea Dardis is Head of the Laboratory of the Regional Coordinator Centre for Rare Diseases, Udine, Italy.  She obtained her PhD in molecular biology at the University of Buenos Aires, Argentina and continued her training at the Metabolic Unit, University of California, San Francisco, USA as a post-doctoral fellow. During her training she was awarded Fellowship of the Lawson Wilkins Pediatric Endocrine Society. She then moved to Italy where she got a Specialist Degree in Medical Genetics at the University of Genoa.

In 2003, she joined the Metabolic Diseases Unit, Pediatric Hospital “Burlo Garofolo”, Trieste, Italy, as a Research Scientist. In 2009 Dr. Dardis moved to the Regional Coordinator centre for Rare Diseases in Udine, Italy, where she became Head of the lab.

Dr. Dardis’s activities are mainly focused on the biochemical and molecular diagnosis of lysosomal storage diseases, the functional characterization of defective lysosomal enzymes and the study of molecular mechanisms involved in the pathogenesis of lysosomal storage disorders.

Due to a family emergency, Dr. Dardis was unable to present at the 2019 AMDA Patient and Scientific Conference and she graciously agreed to give her presentation by webinar.  Please take this opportunity to hear Dr Andrea Dardis present on the identification of new therapeutic targets for Pompe disease.

To read the Webinar summary, please click here.

To watch Webinar, PLEASE CLICK HERE.

Spark Therapeutics Gene Therapy Research Webinar

Posted on: October 22, 2018 – Filed under

Title: Spark Therapeutics Gene Therapy Research Webinar
Date: September 25, 2018
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.

To watch Webinar, please click here.

Design And Performance Of Clinical Trials: An Overview

Posted on: October 24, 2014 – Filed under

Title: Design and Performance of Clinical Trials: An Overview

Date: October 20, 2014

Anne Zajicek, MD, PharmD, FAAP, Chief, Obstetric and Pediatric, Pharmacology and Therapeutics Branch, National Institute of Child Health and Human Development (NICHD)

To watch Webinar, please click here.

The Contribution Of The IPA Survey To Our Understanding Of The Natural Course Of Pompe Disease

 Posted on: August 22, 2014 – Filed under

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: February 27, 2014

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.

To watch Webinar, please click here.
Needle Core Muscle Biopsy

Posted on: April 03, 2012 – Filed under

Title: Needle Core Muscle Biopsy
Date: March 7, 2012


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.

To watch Webinar, please click here.

NMR Imaging And Spectroscopic Techniques For Diagnosis, Follow Up And Evaluation Of Pompe Disease

Posted on: March 15, 2012 – Filed under

Title: NMR Imaging (MRI) and spectroscopic (NMRS) techniques for diagnosis, follow up and evaluation of Pompe disease

Date: January 24, 2012

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.

To watch Webinar, please click here.

Respiratory Muscle Strength Training In Pompe Disease

Posted on: June 21, 2011 – Filed under

Title: Respiratory Muscle Strength Training in Pompe Disease
Date: June 6, 2011
Harrison N. Jones, PhD, BRS-S, CCC-SLP, Assistant Professor, Department of Surgery, Division of Speech Pathology & Audiology, Duke University

To watch Webinar, please click here.

Genzyme's Next Generation Pompe Treatment: Clinical Development Overview

Posted on: June 21, 2011 – Filed under

Title: Genzyme’s Next Generation Pompe Treatment: Clinical Development Overview
Date: February 3, 2011
Edward Kaye, MD
Alison McVie-Wylie, PhD
Dr. Kaye, is currently Group V.P. and Therapeutic Area Head in Clinical Research at Genzyme Corporation where he supervises the clinical research in the lysosomal storage disease programs and in the genetic neurological disorders.
Dr. McVie-Wylie is the Scientific Director of the Pharmacology and Toxicology group at Genzyme Corporation. Alison manages a group of scientists who design, execute, interpret and report studies to support preclinical drug development of novel biologic therapeutics. Alison was the lead Scientist responsible for the preclinical development and licensure of Myozyme.

To watch Webinar, please click here.

BMN-701:Potentially More Effective Treatment Option For Pompe

Posted on: December 24, 2010 – Filed under

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

To watch Webinar, please click here.

Diaphragm Delivery Of Recombinant Adeno-Associated Virus Acid Alpha-Glucosidase

Posted on: November 01, 2010 – Filed under

Title: Diaphragm Delivery of Recombinant Adeno-Associated Virus Acid Alpha-Glucosidase (rAAV1-CMV-GAA) Gene Vector in Patients With Pompe Disease

Date: October 26, 2010

Barry J Byrne, MD, PhD – University of Florida

To watch Webinar, please click here.

Autophagy And It’s Role In Pompe Disease

Posted on: August 14, 2010 – Filed under

Title: Autophagy and it’s Role in Pompe Disease

Date: August 4, 2010

Nina Raben, MD, PhD – Staff Scientist, Arthritis + Rheumatism Branch, National Institute of Arthritis + Musculoskeletal + Skin Diseases (NIAMS), National Institutes of Health, Bethesda, MD.]

Webinar Overview:
Dr. Raben was born in Moscow, Russia (the former Soviet Union). Received medical degree from the Moscow Medical Institute, and Ph.D. degree in Biochemistry from the National Academy of Medical Science, Moscow. Joined NIAMS in 1990. The major focus of research in recent years is Pompe disease. The studies include development of several knockout and transgenic mouse models of the disease, extensive pre-clinical studies with recombinant human enzyme, and investigation of the role of autophagy in the pathogenesis of Pompe disease.

To watch Webinar, please click here.


The AMDA Teleconference Program facilitates the exchange of information between the Pompe patient community and professionals that have expertise in the field.

 Acid Maltase Deficiency Association


Your generous contribution will go a long way into improving the quality of life of Pompe Disease Patients worldwide. Donations go towards Pompe Disease Research.

If you are interested in learning more about Pompe Disease and would like to make a contribution in support of necessary research, please contact us at:


PO Box 700248

San Antonio, Texas 78270 USA