Regulating Rare Disease: Safely Facilitating Access to Orphan Drugs

Area of Science:

• Medical Science
• Regulatory Science
• Pharmaceutical Development

Background:

• Approximately 10% of Americans have a rare disease, yet only 5% have FDA-approved treatments.
• Limited patient populations, incomplete scientific understanding, and high development costs hinder rare disease drug development.
• The approval of Eteplirsen for Duchenne muscular dystrophy highlights the complexities in rare disease treatment development.

Purpose of the Study:

• To analyze the challenges in developing and approving treatments for rare diseases.
• To examine the impact of the current drug regulatory system on rare disease treatment availability.
• To evaluate the potential of the 21st Century Cures Act and the Trickett Wendler Right to Try Act to improve patient access to therapies.

Main Methods:

• Review of existing literature on rare disease drug development and regulatory pathways.
• Analysis of the 21st Century Cures Act's provisions regarding patient experience data.
• Examination of the Trickett Wendler Right to Try Act's implications for patient access.

Main Results:

• Current regulatory frameworks present significant hurdles for rare disease drug development.
• The 21st Century Cures Act and Right to Try Act offer potential avenues to expedite access.
• Careful implementation is crucial to balance patient access with safety assurance.

Conclusions:

• Unmet therapeutic needs in rare diseases can be addressed through legislative reform.
• The 21st Century Cures Act and Right to Try Act, when implemented thoughtfully, can facilitate safe patient access to treatments.
• Legislative efforts can potentially overcome fundamental issues limiting rare disease treatment availability.