From Invisibility to Insight: Data Unlocks New Potential in Rare Disease Research

Vienna, 24.02.2025. Rare diseases present a striking paradox: individually they are often overlooked, yet together, they affect over 300 million people worldwide. Without data, their true impact on those affected and on the healthcare system remains invisible - making research, treatment development, and patient advocacy even more challenging. On February 28th, this year’s Rare Disease Day, AOP Health wants to highlight the power of data to bridge this gap, improving both scientific understanding and patient outcomes. 

“For us at AOP Health, data is much more than numbers—it is the key to making rare diseases and their impact on patients and on our healthcare system visible,” says Dr. Martin Steinhart, CEO of AOP Health. The global pharmaceutical company is specialized in research and development of therapies for rare diseases and in intensive care. 

Harnessing Data to Assess Therapy Value

Rare diseases often come with limited treatment options and gaps in medical knowledge. Prof. Tanja Stamm, Institute of Outcomes Research, Medical University of Vienna, emphasizes the crucial role of data in evaluating therapies: 

However, data privacy requirements create challenges, particularly for rare diseases where small patient populations make anonymization complex. “While data protection is crucial, access to meaningful data is equally important for understanding diseases and assessing the effectiveness of therapies,” adds Prof. Stamm.

With Them, Not About Them: Engaging Patients from the Start

Beyond data, patient engagement is a fundamental aspect of effective drug development. Dr. Rainer Riedl, Co-Founder and board member of DEBRA International as well as chairman of DEBRA Austria and Pro Rare Austria, emphasizes the need for early and meaningful patient involvement: 

Study designs should also reflect patient needs, ensuring accessibility and feasibility. “Patients should be able to participate in clinical trials without undue burden,” he adds. “That means considering travel distances, visit frequencies, and other daily-life factors.

Driving Rare Disease Innovation Forward

AOP Health remains committed to leveraging data, patient engagement, and scientific innovation to improve outcomes for rare disease patients. On Rare Disease Day, the company calls for stronger collaboration between researchers, policymakers, and patient organizations to ensure rare diseases receive the attention they deserve.

Giving Rare Disease Patients a Voice: New Podcast-Series

Rare diseases are not only a medical challenge but also a deeply personal journey for those affected. To bring visibility to their experiences, AOP Health has launched a new German-language podcast series, “Ab jetzt ist alles anders? Leben nach und mit einer schwerwiegenden Diagnose.” (“Will everything be different now? Life after and with a serious diagnosis.”)

The podcast takes an empathetic look at the realities of patients, addressing concerns that often remain hidden. By sharing personal stories, it aims to offer support, raise awareness, and foster a stronger sense of community among rare disease patients, their families, and caregivers.

Link to Podcast: https://alles-anders.podigee.io/ 

About AOP Health

AOP Health is a global enterprise group with roots in Austria, where the headquarters of AOP Orphan Pharmaceuticals GmbH ("AOP Health") is located. Since 1996, the AOP Health Group has been dedicated to developing innovative solutions to address unmet medical needs, particularly in the fields of rare diseases and intensive care medicine. The group has established itself internationally as a pioneer in integrated therapy solutions and operates worldwide through subsidiaries, representations, and a strong network of partners. With the claim "Needs. Science. Trust." the AOP Health Group emphasizes its commitment to research and development, as well as the importance of building relationships with physicians and patient advocacy groups to ensure that the needs of these stakeholders are reflected in all aspects of the company’s actions.

Press Contact.

Mag. Nina Roth, MAS

Head of Corporate Communications
nina.roth[at]aop-health.com

Photocredit Portraits: "AOP Health/Studio Koekart" and "Die Presse / Roland Rudolph"
Photocredit Stock-Photo: "shutterstock_2403923343“