Orphan Drugs: The Role of Patient Advocacy and Community Involvement

Paola Vasquez

doi:10.36648/2380-7245.10.5.190

Orphan Drugs: The Role of Patient Advocacy and Community Involvement

Paola Vasquez

Department of Clinical Pharmacology, Utrecht University, Utrecht, The Netherlands

DOI10.36648/2380-7245.10.5.190

Paola Vasquez^*

¹Department of Clinical Pharmacology, Utrecht University, Utrecht, The Netherlands

*Corresponding Author:: Paola Vasquez,
Department of Clinical Pharmacology, Utrecht University, Utrecht, The Netherlands
E-mail: paola@gmail.com

Received date: September 27, 2024, Manuscript No. IPRDDT-24-19971; Editor assigned date: September 30, 2024, PreQC No. IPRDDT-24-19971 (PQ); Reviewed date: October 14, 2024, QC No. IPRDDT-24-19970; Revised date: October 21, 2024, Manuscript No. IPRDDT-24-19971 (R); Published date: October 29, 2024, DOI: 10.36648/2380-7245.10.5.190

Citation: Vasquez P (2024) Orphan Drugs: The Role of Patient Advocacy and Community Involvement. J Rare Disord Diagn Ther Vol.10 No.5:190.

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Description

In the vast landscape of modern medicine, the development of drugs targeting rare diseases represents a niche yet vital area of research. These drugs, known as orphan drugs, cater to conditions so rare that they often receive limited attention from pharmaceutical companies and researchers [1]. However, the emergence of orphan drugs has brought hope to millions of patients worldwide who suffer from these uncommon but severe conditions. Orphan drugs are pharmaceutical agents developed to prevent, diagnose, or treat rare diseases, often referred to as "orphan diseases." These conditions typically affect fewer than 200,000 individuals in the United States or a comparably small number in other regions. Examples include Gaucher’s disease, Duchenne muscular dystrophy and Huntington’s disease. Developing drugs for rare diseases presents significant challenges, including limited patient populations, high research costs and uncertain financial returns. The term "orphan" reflects the historical neglect of these conditions by mainstream drug development due to their perceived lack of profitability. The turning point for orphan drugs came with the enactment of the Orphan Drug Act (ODA) in the United States in 1983 [2]. The legislation aimed to incentivize pharmaceutical companies to invest in rare disease treatments. Companies were granted seven years of market exclusivity after FDA approval, ensuring a competitive edge. Up to 25% of clinical testing expenses could be offset through tax incentives. Additional financial assistance was provided to support clinical trials. Exemptions from certain FDA fees reduced the financial burden on developers [3]. Similar initiatives followed globally, with the European Union adopting its orphan drug regulation in 2000, providing comparable incentives.

The Importance of orphan drugs

The development of orphan drugs is not merely a business venture it is a moral imperative [4]. Rare diseases collectively affect millions of individuals globally, though each specific condition might have a small patient base. These diseases often lead to severe disabilities, poor quality of life and premature death if left untreated. Orphan drugs offer a lifeline to patients who previously had no treatment options [5]. For instance, Spinraza (nusinersen) revolutionized the treatment of spinal muscular atrophy, drastically improving the prognosis for affected children.

Research on orphan drugs often drives innovation. The unique biological mechanisms underlying rare diseases can provide insights into broader medical phenomena, benefiting research into common conditions. For e.g, studying the genetics of rare lipid disorders has enhanced our understanding of cholesterol metabolism [6]. Despite the incentives and breakthroughs, developing orphan drugs is fraught with obstacles. The limited patient base often results in high per-patient development and production costs. Demonstrating safety and efficacy for small populations can be challenging, requiring innovative trial designs [7]. Orphan drugs are often exorbitantly priced, raising concerns about equitable access. For e.g, Zolgensma, a gene therapy for spinal muscular atrophy, costs over $2 million per dose. Prioritizing treatments for rare diseases may sometimes divert resources from addressing more prevalent conditions, sparking debates about healthcare equity [8,9].

The role of biotechnology

Biotechnology companies have emerged as main contributors in the orphan drug sector. Unlike traditional pharmaceutical companies, which may shy away from niche markets, biotechs are often willing to embrace the challenges of rare disease research. Advances in genetic engineering, gene therapy and precision medicine have significantly accelerated the development of orphan drugs [10]. For instance, therapies like CRISPR-Cas9 gene editing and mRNA-based treatments hold promise for addressing previously untreatable conditions. Bluebird Bio's Zynteglo, a gene therapy for beta-thalassemia, is a shining example of biotechnology's transformative impact. While the U.S. and EU have been frontrunners in orphan drug legislation, other countries are gradually following suit. Japan, Australia and Canada have established their own frameworks to promote orphan drug development. However, disparities persist in access to these treatments globally, with low- and middle-income countries often lagging behind [11]. The World Health Organization (WHO) has emphasized the need for international cooperation to ensure that orphan drugs are accessible and affordable for all. Efforts like the rare diseases international alliance aim to bridge gaps in research, funding and patient advocacy. Patient advocacy groups play an indispensable role in the orphan drug ecosystem. Organizations like the National Organization for Rare Disorders (NORD) provide critical support by funding research, raising awareness and lobbying for policy changes. These groups also connect patients with clinical trials, ensuring that those in need can access experimental treatments. The voice of the patient community is increasingly shaping research priorities, regulatory processes and drug approval pathways.