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This review article examines the regulatory frameworks, recent advances in drug discovery (including genomics and AI), and challenges associated with orphan drugs for rare diseases, which affect 300-400 million people worldwide. It highlights incentives provided by regulatory bodies in the US, EU, and India, and discusses issues such as high costs, global inequity, and lack of harmonization in rare disease definitions. The review does not focus on orthopaedic-specific conditions or treatments.
This review highlights the regulatory and economic landscape surrounding orphan drugs, emphasizing the need for global harmonization and equitable access to treatments for rare diseases.
Abstract - Orphan drugs are medicinal products specifically developed for the diagnosis, prevention, or treatment of rare diseases, which collectively affect 300 to 400 million individuals worldwide. Rare diseases are defined by low prevalence, such as less than 200,000 patients in the US or less than 5 out of 10,000 people in the EU. Due to their small patient populations and the high cost of intensive research and development (R&D), these drugs are often commercially unattractive to the pharmaceutical industry. Regulatory Frameworks and Incentives To overcome commercial barriers and address the significant unmet medical need, global regulatory bodies have established incentive- driven frameworks. Key examples include: United States: The Orphan Drug Act (ODA) of1983 provides incentives such as seven years of market exclusivity after approval, tax credits for clinical testing, and fee waivers. European Union: The EU Orphan Regulation (2000) offers ten years of market exclusivity, protocol assistance, and fee waivers. India: The New Drugs & Clinical Trial Regulations (2019) and the 2021 National Policy for Rare Diseases focus on expedited approval (within 90 days), possible local clinical trial waivers, and temporary price control exemptions. Advances in Drug Discovery Recent technological and scientific advancement are transforming the field Genomics and Personalized Medicine: Many rare diseases have a genetic origin (~80%). Advances in genomics enable the development of personalized treatments that provide "the right patient with the right drug at the right dose at the right time" Artificial Intelligence (AI): AI, Machine Learning (ML), and Deep Learning (DL) are vital tools for accelerating diagnosis, target identification, drug repurposing, and optimizing clinical trials. Challenges and Future Directions Despite the successes, several significant challenges persist: High Costs and Affordability: Orphan drugs often carry high prices, sometimes exceeding hundreds of thousands of dollars annually, straining health care systems Global Inequity: Access to approved orphan treatments remains limited in many low- and middle-income countries (LMICs) due to a lack of structured reimbursement and market incentives. Harmonization: Global harmonization is hindered by variations in rare disease definitions (e.g., US: <200,000; EU: <5/10,000; India: <500,000) and differing incentive packages. Key Words: orphan drug, Genomics, Rare Disease, Hormonization,
