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Advancing orphan drug development for rare diseases

Volume 67(7); July

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Clin Exp Pediatr > Volume 67(7); 2024
Ko: Advancing orphan drug development for rare diseases
Rare diseases, which affect millions of individuals worldwide, present unique challenges and unmet medical needs. The development of orphan drugs specifically tailored to treat these conditions offers a beacon of hope for patients and their families. This review article [1] delves into the significance of orphan drugs and the multifaceted efforts required to bring relief to those living with rare diseases.
Orphan drug development is a complex journey riddled with obstacles. The limited affected patient population poses a financial hurdle for pharmaceutical companies, deterring traditional research and development pathways. Regulatory agencies recognize this conundrum and have introduced orphan drug designations to incentivize progress in this area [2,3].
Orphan drug designation bestows a range of benefits upon developers, including extended market exclusivity, tax credits, and fee waivers. These incentives catalyze research and development, transforming the landscape for rare disease treatments. Collaborative endeavors among researchers, patient advocacy groups, and industry leaders have been instrumental in garnering support and resources [3].
Patient advocacy groups wield a remarkable influence, propelling the development of orphan drugs through awareness campaigns, fundraising initiatives, and policy advocacy [4]. Collaborative networks that connect patients, clinicians, researchers, and regulators are vital to the sharing of knowledge and expertise, fostering a holistic approach to rare disease treatment [5].
Advancements in genomics, personalized medicine, and analytics have revolutionized the landscape of rare disease research. With the power to decode genetic anomalies and tailor interventions to an individual’s unique molecular profile, these breakthroughs hold promise for treatment precision and efficacy [6].
The journey to orphan drug development extends beyond national borders. International collaboration and harmonization of regulatory processes expedite access to life-changing treatments for patients across different nations. Policymakers worldwide are implementing strategies to encourage orphan drug research and streamline approval processes [7].
As we stand at the crossroads of scientific innovation, the future of orphan drug development appears brighter than ever. Emerging technologies, including gene editing and cell therapies, hold the potential for groundbreaking treatments. By embracing collaboration, sharing data, and aligning efforts globally, we can unlock a future in which rare disease patients no longer suffer in the shadows [6].
In conclusion, the quest for orphan drugs embodies a ray of hope for individuals grappling with rare diseases. The convergence of scientific advancements, collaborative initiatives, and regulatory incentives paints a promising picture of improved outcomes and a brighter future.Clinical geneticists at the forefront of this endeavor play a pivotal role in shaping the landscape of rare disease treatment. Let us continue to relentlessly champion the cause, advocate for patients, and collaborate to ensure that no rare disease goes unnoticed or untreated.


Conflicts of interest

No potential conflict of interest relevant to this article was reported.


This study received no specific grant from any funding agency in the public, commercial, or not-for-profit sectors.


1. Yoo HW. Development of orphan drugs for rare disease. Clin Exp Pediatr 2023;Jun 28 doi: 10.3345/cep.2023.00535. [Epub].
2. Ferreira CR. The burden of rare diseases. Am J Med Genet A 2019;179:885–92.
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3. Kimmel L, Conti RM, Volerman A, Chua KP. Pediatric orphan drug indications: 2010-2018. Pediatrics 2020;145:e20193128.
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4. Dunkle M, Pines W, Saltonstall PL. Advocacy groups and their role in rare diseases research. Adv Exp Med Biol 2010;686:515–25.
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5. Litterman NK, Rhee M, Swinney DC, Ekins S. Collaboration for rare disease drug discovery research. F1000Res 2014;3:261.
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6. Miller KL, Fernaglich LJ, Maynard J. Using four decades of FDA orphan drug designations to describe trends in rare disease drug development: substantial growth seen in development of drugs for rare oncologic, neurologic, and pediatric-onset diseases. Orphanet J Rare Dis 2021;16:265.
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7. Chan AYL, Chan VKY, Olsson S, Fan M, Jit M, Gong M, et al. Access and unmet needs of orphan drugs in 194 countries and 6 areas: a global policy review with content analysis. Value Health 2020;23:1580–91.
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