Orphan Drugs and Diseases: A Systematic Review

Area of Science:

• Medical Science
• Health Economics
• Pharmaceutical Policy

Background:

• Rare diseases collectively impact over 300 million people worldwide.
• Orphan drug development is hindered by regulatory, economic, and clinical trial challenges.
• Existing literature lacks a systematic overview of rare diseases and orphan drugs.

Purpose of the Study:

• To systematically review the current landscape of orphan drugs and rare diseases.
• To analyze definitions, therapeutic strategies, economic evaluations, and stakeholder perspectives.
• To identify key factors influencing equitable access to rare disease treatments.

Main Methods:

• Systematic review of 70 screened articles, selecting 10 relevant studies.
• Included study types: systematic reviews, scoping reviews, observational studies, health economic evaluations.
• Data extraction focused on definitions, healthcare roles, cost analyses, and clinical outcomes.

Main Results:

• Global definitions of rare diseases are inconsistent, affecting drug approvals.
• Economic evaluations highlight disparities in orphan drug funding.
• Pharmacist and stakeholder roles are increasingly vital for therapeutic access.
• High costs, ethical issues, and diagnostic advances are prominent themes.
• Pediatric and syndromic rare conditions (e.g., Duchenne muscular dystrophy, Turner syndrome) are frequently discussed.

Conclusions:

• Harmonized rare disease definitions are essential for streamlined drug approval.
• Ethical pricing models and interdisciplinary healthcare roles are needed for sustainability.
• Evidence-based policies are critical to ensure equitable access to rare disease therapies.