Orphan drugs, critical in the treatment of rare diseases, have gained increasing attention in India following the implementation of the National Policy on Rare Diseases (NPRD) in 2021. Nevertheless, India faces significant challenges in ensuring the development, affordability and accessibility of orphan drugs, especially when compared to other countries such as the United States and the European Union. While global frameworks such as the Orphan Drug Act (ODA) of 1983 in the US have successfully incentivized pharmaceutical companies to invest in these drugs, India is still in the early stages of building a robust system that can meet the needs of are patients with rare diseases. .
Orphan drugs are pharmaceutical products that have been specially developed for treatment rare (orphan) diseases. Although these diseases affect only a small portion of the population, they often lead to life-threatening or chronically debilitating conditions. Definitions of orphan drugs vary depending on the regulatory framework. In the US, a disease is considered rare if it affects fewer than 2,00,000 people, while in the European Union, a disease must affect fewer than 1 in 10,000 people to be considered rare. While there is no formal prevalence-based definition in India, the 2021 NPRD outlines a framework for diagnosing and treating rare diseases, expecting a low prevalence threshold. The lack of a clear definition complicates the identification of orphan drugs and meeting the needs of patients affected by these conditions.
Classification of orphan drugs
Orphan drugs are categorized based on the types of diseases they target and their regulatory status. Diseases such as genetic disorders, rare cancers, metabolic disorders and autoimmune diseases often fall under the category of orphan diseases. Genetic disorders include conditions such as cystic fibrosis and Duchenne muscular dystrophy, while rare cancers such as neuroblastoma and gliomas are also candidates for orphan drug development. Metabolic disorders, such as Gaucher disease and Fabry disease, and autoimmune diseases, such as systemic sclerosis, also benefit from orphan drugs. Orphan drugs are further classified as approved by regulatory agencies such as the U.S. Food and Drug Administration (FDA) or the European Medicines Agency (EMA) or orphan drug candidates that are still undergoing clinical trials. These classifications are critical in determining the availability and potential efficacy of treatments for rare diseases.
According to the Indian NPRD, rare diseases are classified into three categories to facilitate treatment approaches. Group 1 includes disorders curable by one-time interventions, such as lysosomal storage disorders (LSDs) requiring hematopoietic stem cell transplantation (HSCT). Group 2 includes diseases that require long-term or lifelong treatment but have relatively lower treatment costs, such as phenylketonuria (PKU) and Maple Syrup Urine Disease (MSUD). Group 3 includes conditions such as Gaucher disease and Pompe disease, where treatment is available but complicated by high costs and the need for lifelong care.
For a drug to be granted orphan drug status, it must meet certain criteria that vary from country to country. Normally the disease in question should have a low prevalence. In addition, there must be no approved treatment for the condition, or the orphan drug must offer significant advantages over current treatment options. Developers of orphan drugs must also provide scientific evidence that the drug has the potential to treat or alleviate the condition. This evidence can be presented at any stage of drug development, from preclinical research to late-stage clinical trials. Once designated, orphan drugs are given several incentives to encourage their development, including market exclusivity, tax credits for research and development (R&D) expenditures, and fee waivers for regulatory applications.
Challenges for India
Although the development of orphan drugs is encouraged worldwide, Significant challenges remainespecially in countries like India. The high cost of research and development is a major barrier, as orphan drugs often target small patient populations, making it difficult for pharmaceutical companies to justify the financial risk. Clinical trials of orphan drugs also face hurdles due to the limited number of available patients, which extends development times. Pricing and accessibility pose additional challenges, as the high cost of orphan drugs often makes them unaffordable for patients in low- and middle-income countries such as India. For example, enzyme replacement therapies (ERTs) for diseases like Gaucher disease can cost several crores annually, putting them out of reach for most Indian patients.
India faces unique challenges in the development and accessibility of orphan drugs, despite efforts such as the NPRD. The country lacks a formal definition and comprehensive data on the prevalence of rare diseases, which hinders drug development efforts. Without a centralized national registry for rare diseases, it is difficult to estimate the true burden of these conditions, limiting pharmaceutical investment in orphan drug research.
At the time of publishing this piece, 14,615 cases have been registered under the portal in the Rare Disease Registry. The high cost of orphan drugs further complicates access, as many internationally available treatments are unaffordable in India. Although the NPRD provides a framework for diagnosing and treating rare diseases, it falls short in providing financial or regulatory incentives that could encourage the development and marketing of orphan drugs. Unlike the US and European Union, India has yet to introduce substantial tax breaks, periods of market exclusivity or other incentives that could boost orphan drug R&D.
Financial incentives are needed at the moment
To address these challenges, India needs to take some important steps. India has established a national rare disease registry to provide accurate prevalence data to guide the development of targeted treatments. In addition, the government should introduce more financial incentives, such as tax breaks, research grants and subsidies, to encourage pharmaceutical companies to invest in the development of orphan drugs. Implementing policies that regulate the pricing of orphan drugs and offering government subsidies could make these treatments more affordable for Indian patients.
Orphan drugs are essential in the treatment of rare diseases, which affect a small but significant part of the population. With the right policy support, financial incentives and infrastructure development, India can improve its orphan drug landscape and provide much-needed treatment options for patients suffering from rare diseases.
Published – Nov 4, 2024 12:28 PM IST
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