Rare disease drug development is challenging due to limited information on patient distribution, change in disease progression and relevant outcomes to measure to define treatment benefits.

The use of disease natural history studies prior to initiation of clinical trials can help provide the information to design clinical studies and recruit patients into trials of new therapies.Due to small and paediatric patient populations, there is an imperative to maximise the number of patients on active therapy in a rare disease drug development programme. As a result, external controls based on data from disease natural history studies are sometimes used instead of an active or placebo control arm to provide comparative information for drug regulatory agencies.

This whitepaper will provide guidance on the design and conduct of rare disease natural history studies and includes case studies and practical strategies for patient identification, recruitment and retention.

Read the whitepaper to learn about:

• Designing natural history studies that are scientifically robust and address the unique challenges of rare disease
• How to use disease natural history information in rare disease drug development
• Sources of rare disease natural history information
• Practical strategies for running rare disease natural history studies