Optimal therapy for rare disorders and genetic diseases: ethical and political challenges

Area of Science:

• Pediatric Pharmacology
• Drug Development
• Medical Ethics

Background:

• The term "therapeutic orphans" was coined nearly 40 years ago to highlight the lack of appropriate drugs and information for pediatric treatment.
• Despite growing awareness, children continue to be underserved in drug development and prescribing information.
• Legislation in the US and EU now aims to increase pediatric therapeutic investigations.

Purpose of the Study:

• To discuss the historical context and evolution of the "therapeutic orphan" concept.
• To explore the broader implications of the "therapeutic orphan" concept beyond pediatrics.
• To advocate for expanded therapeutic interventions for underserved patient populations and rare diseases.

Main Methods:

• Literature review of historical documents and legislative actions.
• Conceptual analysis of the "therapeutic orphan" definition and its applicability.
• Discussion of current challenges and future directions in pediatric pharmacology and rare disease treatment.

Main Results:

• The "therapeutic orphan" concept has evolved from a pediatric focus to encompass broader unmet medical needs.
• Legislation has been enacted to address the deficit in pediatric drug research and development.
• The concept highlights the need for effective treatments for rare diseases and neglected conditions.

Conclusions:

• The "therapeutic orphan" issue remains a significant challenge in medicine, requiring continued research and policy development.
• Expanding the concept beyond pediatrics is crucial for addressing unmet therapeutic needs across diverse patient groups and diseases.
• Further investment in drug discovery and development for rare and neglected conditions is essential.