Title: Evaluating gene therapies for 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. – clinical trial 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. approaches for late-onset Pompe disease (LOPD) currently under evaluation in clinical trialsA research study that tests new treatments or approaches in people., 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. The will also help the audience understand the goals of clinical trials and the assessments that measure those goals.

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 IOPDA severe form of Pompe disease that begins in infancy and often affects the heart and muscles./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 AAVA harmless virus commonly used as a delivery system in gene therapy to carry healthy genes into cells. 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.