Title: Immune ResponsesThe body's natural defense system reacting to substances it sees as foreign, including treatments li... More to AAVA harmless virus commonly used as a delivery system in gene therapy to carry healthy genes into cell... More Gene TherapyA developing treatment that aims to fix, replace, or add genetic instructions. More: Challenges and Emerging Solutions
Date: Thursday, April 23, 2026
Time: 12 p.m. CST / 1 p.m. EST
Speaker:
Abigail Benkert, MD

Summary:
Immune responsesThe body's natural defense system reacting to substances it sees as foreign, including treatments li... More to AAVA harmless virus commonly used as a delivery system in gene therapy to carry healthy genes into cell... More gene therapyA developing treatment that aims to fix, replace, or add genetic instructions. More remain a major barrier to its access and effectiveness. This talk will highlight key immune challenges and emerging strategies to overcome them, including antibody-cleaving enzymes and novel capsids designed to evade pre-existing immunity.

Title: Making sense of research studies and registries
Date: Thursday, February 19, 2026
Time: 7 PM CST / 8 PM EST
Speakers:
Karmen Trzupek
Ryan Colburn

Summary:
Have you heard about research studies and patient registries for Pompe diseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More? These studies are a critical tool in capturing the patient experience, which improves disease understanding, management, and treatment options.
Join this session to learn about the different types of research studies and patient registries for Pompe diseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More. What are the differences between them? How is the data shared and used? We’ll cover what you may want to consider when choosing to participate, cover a few of the historical registries that have contributed to progress in Pompe, and share an innovative patient led registry, Progress4Pompe, where patients own their data and choose how to share it.

Title: Grief Happens in Rare Disease: Let’s Talk About it Already
Date: Thursday, January 15, 2026
Time: 1 PM CST / 2 PM EST
Speaker:
Lisa Keefauver, MSW

Webinar Overview:
Given 100% of us experience loss, multiple times in our lives, means that when we work with humans, we’re working with grievers. That’s why our grief-illiterate culture is deeply problematic, causing so much unnecessary suffering. Based on her professional wisdom as a narrative-therapy trained social worker and her personal insights as a widow and cancer survivor, Keefauver combines metaphor, science, storytelling and humor to help audiences more fully understand the expansiveness and pervasiveness of both the sources and impact of grief in our work and personal lives.

Title: Overview of Breathing Muscle WeaknessA loss of strength that can affect movement, posture, and sometimes breathing. More in Neuromuscular Disease (NMD)
Date: Thursday, September 25, 2025
Time: 1 PM CST / 2 PM EST
Speaker:
Andrea Klein

Webinar Overview:
An introduction to the concepts of breathing and coughing muscle weaknessA loss of strength that can affect movement, posture, and sometimes breathing. More, this presentation highlights the importance of medical self-advocacy to ensure positive outcomes. Topics include the role of muscles in breathing, the relevance of blood gases, the evaluation process, appropriate interventions, and more.

Title: The Role of Genetic Counselors on the Pompe DiseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More Care Team
Date: Monday, June 9, 2025
Time: 2 PM CT / 3 PM ET
Speaker:
Erin Huggins, MS, CGC
Webinar Overview:
This webinar focuses on a unique type of clinician: the genetic counselor. Genetic counselors are specially trained providers that can have an important role on your care management team. In this webinar, we’ll describe who genetic counselors are, what they do, and how they can help you and your family navigate a diagnosis of Pompe diseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More. At the end of the webinar, there will be a Q&A session with the speaker, a board-certified genetic counselor with several years of experience in caring for individuals with Pompe diseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More.

Title: The Pompe Survey: Past Insights and Future Goals
Date: Tuesday, March 25, 2025
Time: 11 AM CT / 12 PM ET
Speakers:
Lauren Dobischok, MSc
Michelle Kruijshaar, PhD
Webinar Overview:
Launched in 2002, the IPA/Erasmus MC Pompe Survey collects information on the impacts of Pompe diseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More on patient’s lives, and how these impacts may change with treatment. Pompe patients from around the world provide this information through an annual questionnaire. The information collected in the Pompe Survey provides insights on the effect of different treatments and particular issues that Pompe patients may face in daily life. With second-generation ERT entering the market and other novel therapies on the horizon, insights from patients’ perspectives are more relevant than ever. Learn about the history of the Pompe Survey, key findings from the survey, and the continued importance of patient participation in achieving future goals in this webinar.

Title: Evolving our understanding of Pompe DiseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More – data driven insights
Date: Wednesday, February 26, 2025
Time: 1 PM CT / 2 PM ET
Speaker:
Ryan Colburn
Webinar Overview:
An overview of how NBS enabled significant updates to Pompe epidemiology (Prevalence, etc), and how the strength of this data enables an improved foundation for evolving our understanding of Pompe around the world, and across the full spectrum of disease. We’ll also cover how this foundation relates to other important topics, including some previously covered in this webinar series such as: ABC’s of Pompe, Disease Management in the NBS era, Treatment development, Emerging research, etc.

Title: The ABCs of Pompe DiseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More
Date: Monday, January 13, 2025
Time: 1 PM CT / 2 PM ET
Speaker:
Erin Huggins, MS, CGC
Webinar Overview:
Are you looking for information on Pompe diseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More or trying to navigate a new diagnosis? Overwhelmed by the amount of information online and the sea of jargon and terminology? Whether you are dealing with a diagnosis, are a family member or a caregiver, or even a medical provider who just wants a refresher on the basics, this webinar is for you! We will cover the “ABCs” of Pompe diseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More including its underlying cause, genetics/inheritance, newborn screening, treatment/management, and more. Information will be presented in a thorough, easy-to-follow manner and there will be time for questions at the end. We hope you’ll join us!

Title: Evaluating gene therapies for Pompe diseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More – clinical trialA research study that tests new treatments or approaches in people. More goals and assessments
Date: Monday, February 26, 2024
Speaker:
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 therapyA developing treatment that aims to fix, replace, or add genetic instructions. More approaches for late-onset Pompe disease (LOPD)A form of Pompe disease that begins after infancy and usually progresses more slowly. More currently under evaluation in clinical trialsA research study that tests new treatments or approaches in people. More, including liver-directed, central nervous system (CNS)-directed, and muscle-directed. The speakers will explain how clinical trialsA research study that tests new treatments or approaches in people. More help determine whether a potential gene therapyA developing treatment that aims to fix, replace, or add genetic instructions. More is a viable treatment option for people living with LOPDA form of Pompe disease that begins after infancy and usually progresses more slowly. More. The will also help the audience understand the goals of clinical trialsA research study that tests new treatments or approaches in people. More and the assessments that measure those goals.

Title: Development of Gene TherapyA developing treatment that aims to fix, replace, or add genetic instructions. More for Pompe DiseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More: Recent History
Date: Tuesday, November 7, 2023
Time: 1 PM CT / 2 PM ET
Speaker:
Dr. Dwight Koeberl
Webinar Overview:
Dr. Koeberl will discuss the rationale for gene therapyA developing treatment that aims to fix, replace, or add genetic instructions. More for Pompe diseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More. He will provide a summary of research focused on clinical development of gene therapyA developing treatment that aims to fix, replace, or add genetic instructions. More with a focus on potential risks versus benefits, as well as expectations regarding the clinical use of gene therapyA developing treatment that aims to fix, replace, or add genetic instructions. More.

Title: Defining Central Nervous System Abnormalities in Infantile and Late-Onset Pompe DiseaseA form of Pompe disease that begins after infancy and usually progresses more slowly. More Patients
Date: Tuesday, October 17, 2023
Time: 1 PM CT / 2 PM ET
Speakers:
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 (LOPD)A form of Pompe disease that begins after infancy and usually progresses more slowly. More. We will describe our comprehensive approach toward understanding the neurobiological abnormalities in IOPDA severe form of Pompe disease that begins in infancy and often affects the heart and muscles. More/LOPD. Finally, we will share preliminary findings from ongoing studies involving patients with IOPDA severe form of Pompe disease that begins in infancy and often affects the heart and muscles. More/LOPD and that are taking place at Boston Children’s Hospital.

Title: Lentiviral gene therapyA developing treatment that aims to fix, replace, or add genetic instructions. More for Pompe diseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More
Date: Tuesday, October 10, 2023
Time: 10 AM CT, 11 AM ET
Speaker:
Dr. Pim Pijnappel, Associate Professor in Cell and Gene TherapyA developing treatment that aims to fix, replace, or add genetic instructions. More at the Erasmus MC University Medical Center, Rotterdam, the Netherlands
Webinar Overview:
The webinar will start with an introduction on Pompe diseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More with the latest information on what we know of the disease and what the current challenges are for treatments. Then, the concept of gene therapyA developing treatment that aims to fix, replace, or add genetic instructions. More will be explained as a possible new treatment option. The focus will be on lentiviral gene therapyA developing treatment that aims to fix, replace, or add genetic instructions. More, which is 1 of many possible forms of gene therapyA developing treatment that aims to fix, replace, or add genetic instructions. More. 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.

Title: Spark Therapeutics Webinar: Trail Expectations – What to Expect
Date: Wednesday, September 27, 2023
Time: 1 PM CT / 2 PM ET
Speaker:
Jacose Bell
Webinar Overview:
This presentation, developed by Spark Therapeutics, takes audience members through the introductory science of AAVA harmless virus commonly used as a delivery system in gene therapy to carry healthy genes into cell... More gene therapyA developing treatment that aims to fix, replace, or add genetic instructions. More. We will examine how AAVA harmless virus commonly used as a delivery system in gene therapy to carry healthy genes into cell... More theoretically works in a liver-directed approach, how that is different from other investigational forms of cell and gene therapyA developing treatment that aims to fix, replace, or add genetic instructions. More, and what the challenges and potential risks are with AAVA harmless virus commonly used as a delivery system in gene therapy to carry healthy genes into cell... More gene therapyA developing treatment that aims to fix, replace, or add genetic instructions. More. 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.

Title: New insights into Pompe diseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More since the advent of NBS
Date: Thursday, August 10, 2023
Time: 1 PM CT / 2 PM ET
Speakers:
Dr. Priya Kishnani, MD
Erin Huggins, MS, CGC
Webinar Overview:
An overview of the lessons learned from newborn screening for Pompe diseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More and its impact on disease management.

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. More 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 tha... More worldwide.

Title: The Value of Patient Reported OutcomesInformation about health, symptoms, or quality of life reported directly by patients. More: 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 outcomesInformation about health, symptoms, or quality of life reported directly by patients. More 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. More 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.