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.

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.