Title: Development of Gene Therapy for Pompe Disease: 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 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.

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
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). 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.

Title: Lentiviral gene therapy for Pompe disease
Date: Tuesday, October 10, 2023
Time: 10 AM CT, 11 AM ET
Speaker:
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.

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 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.

Title: New insights into Pompe disease 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 disease 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 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.

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 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: 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 Enzyme Replacement Therapy for Lysosomal Storage Diseases
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 disease treated with in utero enzyme replacement therapy.