Research

Pompe Consortium

Progress4Pompe- A RARE-X Collaboration

Together, we are removing barriers for data collection and sharing by utilizing a patient-owned data platform designed to accelerate research, treatments, and cures for Pompe Disease.

“We think the experience with Pompe offers an opportunity (and responsibility) to create a path for other diseases and build out a scalable model to show what pooling patient owned data looks like – and what it can do! Additionally, we can show how modernized roles and relationships between different players can create new experiences that support the ecosystem health and will accelerate discoveries.”
–Ryan Colburn, a Pompe disease advocate and organizer of Pompe.Community

Introduction

Progress4Pompe is a collaborative initiative between RARE-X and the Pompe disease advocacy community that empowers individuals living with Pompe disease and their caregivers to directly contribute to research through a secure, patient-owned data collection platform.

Historically, patient data in Pompe disease has been fragmented across isolated academic institutions and industry-sponsored registries, limiting accessibility and reuse. In both cases, patient-level, de-identified data is not available to external researchers. The result is that researchers, both in academia and industry, often need to repeat studies and collect the same types of patient data to advance and test therapeutic hypotheses. Progress 4 Pompe is designed to change that by creating a centralized, longitudinal, and patient-governed data resource that researchers and therapy developers can use to drive innovation in care and treatments.

Over the last ten years, most US states and multiple countries throughout the world have begun testing for Pompe disease through newborn screening programs. This disorder, once thought to be extremely rare, is now recognized to affect approximately 1:18,000 individuals. This explosion in the rate of diagnosis has inspired patients and families to come together to create patient-owned data resources, in order to accelerate our understanding of the variability of this condition and the development of more effective therapies.

Progress4Pompe participants complete a series of research-ready, validated patient reported Clinical Outcome Assessment Measures (COAs) that collect detailed information about symptoms, diagnostic journeys, treatment history, and quality of life. Genetic data, clinical diagnosis, and family history are also captured, enabling a more complete picture of how Pompe disease presents and progresses across different populations.

This patient-first approach ensures that people living with Pompe disease, whether diagnosed through newborn screening, in childhood, or in adulthood, can help shape the next generation of clinical research while retaining ownership and control of their health data.

Achievements & Learnings

To date, Progress4Pompe has reached several critical milestones towards its mission:

Expert Advisory Group Identified Critical eCOA Measures
Progress4Pompe convened a multidisciplinary expert advisory group including clinicians, researchers, and patient leaders to identify the most relevant patient-reported COAs (Clinical Outcome Assessments) for capturing the severity of symptoms and the lived experience of Pompe disease. These validated tools were selected to ensure that data collected reflects the most impactful symptoms and generates insights across ages and disease stages.

Collaborative Program Design and Patient Advocacy Group Partnerships
From the start, Progress4Pompe has been co-designed with patient advocacy leaders to ensure that the structure, content, and goals of the initiative align with the real needs of the community. These partnerships foster trust, inclusivity, and patient engagement – driving broader participation.

Defined Community-Driven Research Goals
By actively engaging the Pompe community, the program has outlined research priorities that include:
– Connecting eligible patients to clinical trials, regardless of their geography or historical ability to travel
– Improving our understanding of early signs and symptoms of Pompe disease
– Accelerating the rate of diagnosis in older children and adults with Pompe disease through a recognition of the true variability of this condition
– Increasing the number of biopharma companies investing in Pompe disease by creating a data resource available to any qualified researcher
– Improving care for children and adults affected with Pompe disease by incorporating real world experience into research studies