Title: When A Hospital and A Patient Organization Work Together
Date: Tuesday, March 28, 2023
Time: 1 PM CT / 2 PM ET
Speaker:
Maudy Theunissen, MD
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 outcomesInformation about health, symptoms, or quality of life reported directly by patients. 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 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. worldwide.

Title: The Value of Patient Reported Outcomes: The Patients’ Voice
Speaker:
Nadine van der Beek, MD, PhD
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 fatigueA strong sense of tiredness or low energy that does not fully improve with rest. 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: Insurance 101: Learning the Basics
Date: Tuesday, December 13, 2022
Time: 1 PM CT / 2 PM ET
Speaker:
Amy DeStefanis, LCSW, CCM
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.

Title: In Utero EnzymeA protein that helps the body carry out chemical reactions. Replacement Therapy for Lysosomal Storage DiseasesA group of diseases in which substances build up inside lysosomes because the body cannot break them down properly.
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 diseases, 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. treated with in utero enzyme replacement therapy.

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 weaknessA loss of strength that can affect movement, posture, and sometimes breathing., 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 historyThe way a disease changes over time without treatment, or as it is observed over time. 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.