Track 42: Clinical Research in Rare and Orphan Diseases

Overview: Clinical Research in Rare and Orphan Diseases

Clinical research in rare and orphan diseases focuses on understanding, diagnosing, and developing treatments for conditions that affect a small percentage of the population, often defined as fewer than 200,000 individuals in the U.S. or fewer than 1 in 2,000 people in Europe. Despite their rarity, there are over 7,000 known rare diseases, collectively impacting millions worldwide. Research in this field presents unique challenges, including limited patient populations, lack of natural history data, and underfunded studies. However, it is also a dynamic area of innovation, often involving adaptive trial designs, real-world evidence, and international collaborations to pool data and resources.

Key Sub-Topics in Clinical Research in Rare and Orphan Diseases:

Natural History Studies · Orphan Drug Designation and Incentives · Adaptive Trial Designs · Patient Registries and Data Sharing · Global Research Collaboration · Biomarkers and Surrogate Endpoints · Compassionate Use and Expanded Access · Pediatric Rare Disease Trials · Patient-Centered Outcomes in Rare Diseases · Real-World Evidence Collection · Challenges in Patient Recruitment · Regulatory Support for Rare Disease Research · Genomic Approaches to Rare Disorders · Post-Marketing Surveillance for Orphan Drugs · Role of Advocacy Groups in Research