Highlights from the 2023 World Orphan Drug Congress in Washington DC

The World Orphan Drug Congress recently convened in Washington DC to discuss the critical role of working together in advancing research and improving care for people living with rare diseases. The conference brought together stakeholders from various sectors, including patient advocacy organizations, pharmaceutical companies, service providers, and public-private partnerships. This article provides a short, non-exhaustive overview of some of the key discussions from the conference based on the notes from our colleagues Dr. Andreas L.G. Reimann and Robert Pleticha who were in attendance.

Collaboration and data standards

The Critical Path Institute, a public-private partnership established by the FDA, is working with the National Organization for Rare Disorders (NORD) to improve data quality and establish data standards. In addition, the RDCA DAP program, which also includes the FDA, focuses on e-learning in drug development and data contributions through the "I am Rare" platform.

Rare Disease Centers of Excellence

A network of 40 leading medical centers called the Rare Diseases Centers of Excellence has been established in the USA to improve care and accelerate research for all rare diseases. This initiative is being managed by NORD and includes a knowledge-sharing platform and collaboration hub. Efforts are underway to develop a digital platform where experts can showcase and list their knowledge of specific rare diseases, although this is not yet available through official channels.

Disease community engagement for clinical trials

Building relationships with disease communities before moving forward with clinical trials is critical. Clinical trial recruitment information should resonate with the community. The best practices continue to involve the use of patient insights to inform trial design. Incorporating patient insights into clinical development does not add significant time to the overall process and benefits both the community and the company.

Improve the quality of life and data collection: The focus is shifting to treating symptoms and improving people’s quality of life (QoL) rather than relying solely on biomarkers. Regular update calls with compliance departments and inviting cross-functional teams to activities like patient advisory boards and workshops are integral to the process.

Patient registries and data ownership

Patient organizations are taking the lead in establishing patient registries. For example, the IFOP Association has created a registry for FOP patients that is solely owned by the organization. Poor adoption by physicians has led to efforts to integrate medical records directly into registries. Medical boards review data requests to ensure commitment to privacy.

Data Sharing Initiatives

Various organizations are working on innovative data-sharing technologies. The MDA's MOVR research study involves a custom-built registry covering seven diseases. The OpenTreatments Foundation aims to create new data-sharing technology, gathering patient-level data (deidentified) and aggregated data. Challenges include privacy laws, data residency, and the need to merge different data sets.

See you again soon

The World Orphan Drug Congress emphasized the crucial role of patient data in advancing rare disease research and improving patient care. Collaboration among stakeholders, adherence to data standards, engaging disease communities, and focusing on patient needs were recurring themes throughout the conference. By harnessing the power of patient data, the rare disease community can accelerate progress and ultimately work towards finding cures for these conditions.

See you next year in Boston!