Celebrating Rare Disease Day and 40 years of the Orphan Drug Act advocating for rare disease patients and their families
February is Rare Disease Month. It has been 40 years since the groundbreaking Orphan Drug Act of 1983, which encourages the pharmaceutical industry with incentives to pursue research and development of orphan drugs for patients living with rare diseases. Dr. Harsha Rajasimha, the founder & executive chairman of IndoUSrare, is trailblazing a path toward community engagement and global advocacy for rare disease patients and their families.
(Herndon, VA) February 22, 2023 — Global life expectancy has more than doubled over the last two centuries, from less than 30 years to more than 72 years.1 Despite the advances during the ‘golden age of medicine’ throughout the first half of the 20th century, for persons living with rare diseases, 26% still die before the age of five, and depending on the severity of the disease, 37% have a reduced life expectancy.2 Pharmaceutical companies were historically loathe to research and develop life-saving drugs and treatments for rare diseases because it wasn’t profitable marketing drugs to such a small segment of the population. Rare disease patients became known as ‘orphans,’ having been abandoned by prescription drug manufacturers.3 In 1983, the U.S. Congress passed the Orphan Drug Act to incentivize drug manufacturers to pursue the development of drug treatments for rare diseases. Dr. Harsha Rajasimha is the founder and executive chairman of the Indo-US Organization for Rare Diseases (IndoUSrare), a not-for-profit organization that seeks to bridge the gap between the western and eastern hemispheres when it comes to orphan diseases. He notes, “It has been 40 years since this watershed moment in the research and development of treatments for rare diseases. While we celebrate our significant progress, we must continue to look toward the still foggy road ahead.”
The FDA’s Orphan Drug Act describes a rare disease as a medical condition that affects less than 200,000 people in the United States. There are currently over 10,000 rare diseases that impact more than 30 million people nationwide. For 40 years, the FDA has worked with patients, patient advocates, and researchers, encouraging the development of safe and effective drugs, biologics, and treatment products for orphan diseases.4 When the FDA grants an orphan drug designation, sponsors and developers can receive research grants, tax credits for clinical trials, and a potential seven years of market exclusivity. To the latter, Congress determined the benefits of increased access to new treatments for rare disease patients, countervail granting drug sponsors a monopoly of an approved orphan drug.5
The U.S. Department of Health and Human Services (DHHS) reports that the passage of the Orphan Drug Act has ‘unquestionably stimulated’ the development of orphan drugs.5 From 1983 to 2019, the FDA conferred 5,099 drugs and biologics orphan drug designation. The top three orphan drug designations include oncology (1,910 | 37%), neurology (674 | 13%), and infectious diseases (436 | 9%). The proportion of designations for pediatric-onset diseases has increased to 27% from 2010 to 2020.6 Clinical trials have become more patient-centric by incorporating electronic patient-reported outcomes, patient advocacy groups, and nonprofit organizations dedicated to driving policy and advancements in the treatment of rare disease patients.
Frank Sasinowski, MS, MPH, JD, director at Hyman Phelps McNamara P.C., and founding board member of IndoUSrare says, “One in 10 persons in every community around the globe are afflicted by 1 of the 10,000 rare diseases that exist. Forty years ago, almost no one was trying to develop treatments for any rare disease. Now there are over 1,080 orphan therapies for over 500 rare diseases. Progress is being made all over the world as people with rare diseases come together to share their medical stories in registries that accelerate the development of new therapies.”
“For all of this progress,” Dr. Rajasimha observes, “approximately 93% of orphan diseases remain without any FDA-approved drugs. In countries such as India, the drug controller general of India (DCGI) may waive the need for additional clinical trials for already FDA-approved orphan drugs. At present, there are more than 1,200 active clinical trials recruiting patients for gene therapies; five cell/gene therapies have been approved by the FDA so far, and this number is expected to grow tenfold over the next decade, which means we could see hundreds and even thousands of genetic diseases having new treatments in our lifetime.”
IndoUSrare focuses on accelerating therapies for rare diseases by building collaborative bridges between the U.S. and the Indian subcontinent for education, advocacy, and research. Dr. Rajasimha adds, “Our vision is to accelerate research and development of diagnostics and therapeutics through education, advocacy, training, research, digital patient engagement, new technology platforms for registries, clinical trials, and investments.”
February is Rare Disease Month, and February 28, 2023, is International Rare Disease Day. Its mission is to raise awareness and bring about change for over 300 million people living with rare diseases across the globe, as well as their families and caregivers. Rare Disease Day features special talks by key opinion leaders, panel discussions, and lived experience accounts from patients living with rare diseases worldwide. Started in 2008, Rare Disease Day is patient-led and includes contributions from individuals, families, caregivers, healthcare professionals, researchers, clinicians, policymakers, and industry representatives.
“Rare Disease Month gives patients and their families a voice. Too many may never see or benefit from future breakthroughs in treatment for their own condition in their lifetime. Their advocacy is pure and full of compassion for the millions who are suffering worldwide. The orphan disease R&D community also has an ideal opportunity during Rare Disease Month to share their progress, amplify their message, and urge continued progress globally. We need rare disease advocacy and registries to become global villages with a reach beyond the United States and Europe to Asia, Africa, and Latin America. South Asia, including the Indian subcontinent, is densely populated, with a quarter of the world’s population living there. It’s critical for those in the rare disease community dedicated to advancing education, research, encouraging policy enhancements, and improving treatments and quality of life for those living with a rare disease to come together and make themselves heard.”Dr. Rajasimha
IndoUSrare is a humanitarian nonprofit 501(c)(3) tax-exempt public charity organization based in the United States. Founder and chairman Dr. Harsha Rajasimha, who lost a child to a rare disease in 2012, has been a rare disease advocate for more than 10 years. To address the unmet needs of diverse patients with rare diseases globally, the leadership team comprised of experienced professionals from research, advocacy, regulatory, and drug development seeks to build cross-border collaborations connecting stakeholders of rare diseases in low- and middle-income regions such as India, with their counterparts and clinical researchers in the United States to improve the diversity of clinical trial participants, accelerate research and development, and improve equitable access to life-saving therapies to diverse populations of rare disease patients. Visit https://indousrare.org.
- Roser, M., Ortiz-Ospina, E., & Ritchie, H. (2013). Life Expectancy. Our World in Data. ourworldindata.org/life-expectancy#:~:text=Globally%20the%20life%20expectancy%20increased
- Rare Diseases & Critical Care. (n.d.). Home. aop-health.com/global_en/rare-diseases#:~:text=Many%20rare%20diseases%20are%20life%2Dthreatening%20or%20very%20burdensome&text=About%2026%25%20of%20the%20patients
- Research, C. for D. E. and. (2019). Orphan Products: Hope for People With Rare Diseases. FDA. fda.gov/drugs/information-consumers-and-patients-drugs/orphan-products-hope-people-rare-diseases
- Commissioner, O. of the. (2020, February 20). Rare Diseases at FDA. FDA. fda.gov/patients/rare-diseases-fda
- OFFICE OF INSPECTOR GENERAL THE ORPHAN DRUG ACT IMPLEMENTATION AND IMPACT. (2001). oig.hhs.gov/oei/reports/oei-09-00-00380.pdf
- Miller, K. L., Fermaglich, L. J., & Maynard, J. (2021). 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 Journal of Rare Diseases, 16. doi.org/10.1186/s13023-021-01901-6
Karla Jo Helms, JOTO PR™, 727-777-4619. jotopr.com