AMDA WEBINAR PROGRAM

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

UPCOMING WEBINARS

Aquatic Physical Therapy Webinar

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

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 register for Webinar, CLICK HERE!

 

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

Speaker:

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.

 To register for Webinar, CLICK HERE!

 

* Note: The webinar cannot be recorded since the research data is unpublished, Jennifer’s collaborators have requested that it not be recorded.

OTHER WEBINARS

AMDA Zoom Webinar With Sanofi

Title: POMPE REGISTRY: 18 YEARS OF LEADERSHIP AND CONTRIBUTIONS

Date: April 11, 2022

Speakers:
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 info@amda-pompe.org 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

Speaker:
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

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 communities.

To watch Webinar, PLEASE CLICK HERE.

”Dr.

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.

Speaker:
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
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.

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

Speaker:
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

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.

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
 

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.

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

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.

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
Speaker:
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
Speaker:
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
Speakers:
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

Speaker:
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

Speakers:
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.

AMDA TELECONFERENCE PROGRAM

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

GET INVOLVED

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:

(210) 494-6144

info@amda-pompe.org

AMDA

PO Box 700248

San Antonio, Texas 78270 USA