Rare Disease

Understanding Rare Diseases

Rare diseases, also known as orphan diseases, affect fewer than 200,000 people in the United States. While each condition may be rare individually, collectively they affect millions of people worldwide.

Finding treatment options for rare diseases can be particularly challenging because there may be limited research, fewer specialists, and fewer available treatments. Clinical trials and emerging therapies often represent the best hope for patients with rare conditions.

How Trials & Therapies Relate

Clinical trials for rare diseases are essential for developing new treatments. Many rare disease trials focus on:

• Gene therapy and genetic treatments
• Orphan drug development
• Precision medicine approaches
• Biomarker-guided therapies