Webinar Details
Title: When A Hospital and A Patient Organization Work Together & The Value of Patient Reported Outcomes
Date: Tuesday, March 28, 2023
Time: 1 PM CT / 2 PM ET
Speakers:
Maudy Theunissen, MD
Nadine van der Beek, MD, PhD
Presentation 1:
Title: When A Hospital and A Patient Organization Work Together
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.
Presentation 2:
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.
Speaker Biographies
Maudy Theunissen, MD
Physician Researcher, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center
Maudy Theunissen is a physician researcher and PhD candidate at the Center for Lysosomal and Metabolic Diseases of the Erasmus MC University Medical Center. She focuses on research into the mechanisms that underlie the differences in response to enzyme replacement therapy in adults with Pompe disease. By combining clinical data and patient reported outcomes she hopes to improve and personalize treatment. Besides research, she is involved in the care of adults with Pompe disease in the Netherlands.
Nadine van der Beek, MD, PhD
Assistant Professor and Consultant Neurologist, Department of Neurology / Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center
Dr. Nadine van der Beek is an assistant professor and consultant neurologist at the department of Neurology / Center for Lysosomal and Metabolic Diseases of the Erasmus MC University Medical Center. As a neurologist, she is involved mainly in the care of children and adults with neuromuscular diseases. She completed her training in neurology in Rotterdam, and for her further specialization in neurobiology she worked for several months at the Hôpital Universitaire Pitié-Salpêtrière in Paris.
Nadine’s current scientific work focuses on the long-term effects of enzyme-replacement therapy in children and adults with Pompe disease, and the development and validation of new outcome measures. She is also involved in the translational research into the development of AON and lentiviral gene-therapy for Pompe disease. She has participated in several clinical trials in Pompe disease, and other neuromuscular diseases.
Nadine is an active member of the European Pompe Consortium (EPOC), leading the work-package on patient-reported outcomes (PROs), and has participated in several industry advisory boards. Furthermore, she is a co-chair of the muscle working group of the European Reference Network for neuromuscular diseases (Euro-NMD).