Webinar Details
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
Webinar Overview:
Have you heard about research studies and patient registries for Pompe disease? 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 disease. 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.
Disclaimer: The content provided in this webinar is for informational purposes only and does not constitute an endorsement by AMDA.
Recording or reposting AMDA webinars is prohibited without the AMDA’s prior express written permission. Unauthorized use may result in takedown demands and legal action.
Speaker Biography
Karmen Trzupek
Senior Director of Scientific Programs, Global Genes
Karmen Trzupek is the Senior Director of Scientific Programs at Global Genes. In this role, she is responsible for developing collaborative programs and partnerships that maximize the power of patient-owned data to advance rare disease understanding and support the development of treatments. One of these programs is the Progress4Pompe study, a collaboration with the Pompe disease community that empowers individuals and families impacted by Pompe disease to directly contribute to research through a secure, patient-owned data collection platform. By background and training, Karmen is a clinical genetic counselor who has dedicated her career to supporting patients and families impacted by rare diseases, and to partnering with rare disease communities as critical stakeholders in the advancement of clinical and therapeutic research. This work has spanned academic care, clinical research, telemedicine, and nonprofit advocacy.
Ryan Colburn
Principal, odimm
Ryan Colburn has some genetic variants, just like everyone else. In 2015 he learned that some of his variants are associated with a rare metabolic disorder—and has unapologetically altered course ever since. His professional background is in development, engineering and operations management; as applied to race cars, airplanes, rockets, satellites… and rare disease. He’s a driven student of process (its everywhere) and in this context, applying what he’s learned along the way to contribute to the health of the rare disease ecosystem. He’s passionate about empowerment and engagement—and shifting the view of patients as “subjects” to one of participants, collaborators, and partners who can help to find the most effective ways to accelerate progress on understanding and solving challenges in rare disease.