Affordability of Orphan Drugs Hinges on Global Collaboration


Cross-border collaborations are the way forward to make life-saving treatments more affordable and accessible to patients with rare diseases around the world.

Rare diseases are diseases that affect 6.5 to 10 out of every 10,000 people; however, there are nearly 11,000 known rare diseases.1,2 In total, more than 400 million people suffer from rare diseases worldwide.

In India alone, more than 70 million people are affected.1 This puts a heavy strain on the health care infrastructure in countries like India which are already ill-equipped to deal with the needs of a large population with only 0.7 hospital beds per 1000 people.3 India has a population of over 1.4 million, most of whom live in rural areas.

In India, it has been estimated that only 40% of households have access to some form of health insurance.4 The national economic burden due to rare diseases was calculated to be close to a trillion US dollars.5

Despite the attention brought to rare disease due to their significant cost to the economy, most patients with rare diseases and their families face numerous challenges to treatment. Patients are often undiagnosed or misdiagnosed, and those fortunate enough to get a timely diagnosis lack access to available treatments.

The year 2023 marks 40 years since the landmark Orphan Drug Act came into effect in 1983, and more than 30 years since the first commercial therapy for a rare disease was approved by the FDA in 1992. But still, around 95% of rare diseases do not have an approved treatment today. Even when a therapy is available, it is often exorbitantly priced, placing it beyond the reach of most patients and their families. This challenge is compounded by the fact that rare diseases and their treatments are often not covered by insurance.

Rare Disease Clinical Trials

For many patients with rare diseases, clinical trials are often the best and only treatment option. However, research on rare diseases is historically underfunded and faces a plethora of difficulties.

Specifically, patient recruitment is one of the biggest bottlenecks for rare disease clinical trials, which is made challenging due to the small patient pool for any given rare disease. However, these difficulties around patient recruitment are made worse due to delayed or improper diagnoses, lack of awareness, and limited ability of patients to travel to study sites.

Patients of minorities especially face difficulty in accessing treatment due to a variety of reasons including frequent misdiagnoses, as there is an extremely poor representation of minorities in clinical trials for new therapies.6

The inequity in access is particularly skewed against patients from low- and middle-income countries (LMICs) like India. However, the Indian diaspora is the largest in the world with over 4.2 million people of Indian origin in the United States alone. Yet, this population is severely underrepresented in clinical research.

Additionally, although India is the home of a quarter of the world's population, representing a genetically diverse group of multiple ethnicities, less than 2% of global clinical trials have study sites in India.7 Other LMICs also face a similar lack of inclusion.

A lack of diversity in clinical trial participants means that any drugs which may eventually come to market are based on data from a predominantly White population, since orphan drugs are mostly discovered and developed in the western hemisphere; this significantly reduces the generalizability of these treatments.

The Biomedical Industry in India

The Indian biomedical industry is one of the fastest-growing sectors in the country, with a significant increase in reputation in recent years. However, the industry faces numerous issues, such as lack of funding for basic research, unavailability of raw materials in a cheap and sustainable manner, regulatory barriers, and poor support from the government in the form of policies and incentives. There are also substantial opportunities for growth and development.

Many organizations have taken up R&D and production of products and services to help patients with rare diseases. The recent allocation of INR 5 million by the Indian government to patients for the treatment of rare diseases could be a watershed moment for the industry, incentivizing more international entities to view India as a promising market.8

In an additional welcome step, the Indian government announced a scheme to eliminate sickle cell anemia from India by 2047.9 Further, the government is also expected to launch a new program aimed at promoting research in pharmaceuticals with a view to promote the growth of the biomedical sector.10

These improvements in the Indian biomedical sector can be expected to have effects internationally in improving health outcomes and reducing the cost of care for people in India and around the world. There is also an increasing understanding of the importance of patient-driven research for rare diseases, with improved involvement from patients and their representatives in research efforts both at the country level as well as internationally. This is aided by organizations which work to build collaborations that raise awareness and accelerate research and therapy development in a patient-centric manner.

Cross-border Collaboration

Concerted global efforts are essential to accelerate orphan drug development and reduce costs involved in rare disease research. Further, cross-border collaborations are critical to addressing the inequity in access to life-saving therapies for rare diseases and ensuring the inclusion of a diverse group of participants in rare disease clinical trials.

Rare disease clinical trials are multinational and multi-site driven by necessity. By including incidence and prevalence data from diverse populations in their investigational new drug status applications, biologic license applications, and orphan designation applications, biopharmaceuticals will be able to include a more representative sample of the affected population for rare disease research. It is imperative that investigators overhaul the traditional way clinical trials are conducted and include plans to improve global patient retention such as decentralized trials and virtual clinical site visits.11

International collaborations are key to leveraging the latest and emerging technologies to overcome the challenges in rare disease research to make previously unaffordable therapeutics available to all patients with rare diseases globally. This requires a concerted effort to increase awareness through campaigns such as globalart andscience contests, conduct research to understand the epidemiological data, and connect patients to the latest research to accelerate the diagnosis and treatment of rare diseases.12

On Rare Disease Day on February 28, 2023, Abbey S. Meyers, the mother of a boy with the rare disease Tourette Syndrome and the pioneer behind the Orphan Drug Act,will be speaking about the importance of addressing rare diseases as a more global crusade. as well as why “unless a drug is affordable, it is not truly available.”13

About the Author

Nisha Venugopal, PhD, is the program manager at IndoUSrare where she hopes to use her experience in the cell biology of rare diseases and policy research on clinical trial transparency to support and help patients gain access to life-saving therapies through research, outreach and advocacy efforts to drive policy changes in favor of rare disease patients in India.She has a PhD in Life Sciences from the CSIR - Centre for Cellular and Molecular Biology (CCMB), India, where she studied the role of the primary cilium in adult skeletal muscle stem cells. Her postdoctoral research at the Institute for Bioinformatics and Applied Biotechnology, India involved a detailed analysis of global clinical trial registries.


  1. Ministry of Health and Family Welfare. National Policy for Rare Diseases, 2021. Ministry of Health and Family Welfare website. 2021. Accessed March 3, 2023.
  2. The Power of Being Counted - RARE-X. 2022. Accessed March 3, 2023.
  3. Bora N. The Future Of Healthcare Investment In India. October 23, 2020. Accessed March 3, 2023.
  4. Stats of India.Stats of India website. Accessed March 3, 2023.
  5. Yang G, Cintina I, Pariser A, Oehrlein E, Sullivan J, Kennedy A. The national economic burden of rare disease in the United States in 2019. Orphanet J Rare Dis. 2022;17,163. doi:10.1186/s13023-022-02299-5
  6. Clinical Trial Diversity Factsheet 􏰶 APIAHF. January 2021.Accessed March 3, 2023. diversity-factsheet/
  7. Chakraborty M, Choudhury MC, Chakraborty I, Saberwal G (2022) Rare disease patients in India are rarely involved in international orphan drug trials. PLOS Glob Public Health 2(8): e0000890.
  8. Initiatives by the Government for treatment of rare diseases. Accessed March 3, 2023.
  9. ET HealthWorld. (2023, February 1). Union Budget 2023-24: Eliminate Sickle Cell Anaemia by 2047 ‘welcome step.’ Accessed March 3, 2023.
  10. Mabiyan R. Union Budget 2023-24: Pharma industry hails move to promote research & innovation through CoE. 1, 2023. Accessed March 3, 2023.
  11. Venugopal N. Impact of COVID-19 on rare disease research and clinical development: a global perspective. February 11, 2021. Accessed March 3, 2023.
  12. Art4Rare 2023 - Worldwide Art Contest. Accessed March 3, 2023.
  13. Rare Disease Day 2023. Rare Disease Day 2023. March 1, 2023. Accessed March 3, 2023.
Related Videos
pharmacy oncology, Image Credit: © Konstantin Yuganov -
Pharmacist holding medicine box in pharmacy drugstore. | Image Credit: I Viewfinder -
Pharmacy Drugstore Checkout Cashier Counter | Image Credit: Gorodenkoff -
Mayo Clinic oncology pharmacy
Testicular cancer and prostate cancer concept. | Image Credit: kenchiro168 -
Medicine tablets on counting tray with counting spatula at pharmacy | Image Credit: sutlafk -
Capsules medicine and white medicine bottles on table | Image Credit: Satawat -
© 2024 MJH Life Sciences

All rights reserved.