Millions Suffer From Untreatable Rare Diseases While Medical Costs Skyrocket

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New studies highlight the devastating economic burden of rare diseases. Impacting about 30 million people in the United States alone, the direct and indirect medical costs of rare diseases approach $1 trillion annually. Meanwhile, individuals living with rare diseases are often misdiagnosed, which prolongs their suffering as they are burdened personally and financially. The U.S.-based humanitarian organization IndoUSrare is leading a corporate alliance to expand access to clinical trials and accelerate solutions.

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IndoUSrare’s efforts are committed to accelerating research of rare diseases and the development of effective treatments. By creating collaborative bridges, they hope to improve equity, inclusion, and access to life-saving therapies for rare disease patients of every age and around the world.

The economic burden of rare diseases has been vastly underestimated. A retrospective study of medical and insurance records indicates medical costs for people with a rare disease are three to five times greater than for other medical conditions.(1) Additional studies identified inpatient care, longer lengths of stay, higher charges per admission, and high readmission charges as contributing to the disproportionate direct costs of $768 billion for rare disease patients compared to $880 billion for all other conditions combined.(2) IndoUSrare is a U.S.-based humanitarian nonprofit 501(c)(3) tax-exempt public charity organization dedicated to addressing the unmet needs of patients living with rare diseases around the world.

The first step in addressing the problem is applying a universal definition. Researchers identified 296 definitions from 1,109 organizations.(3) There is even a lack of agreement on the number of patients needed to define a rare disease. In the United States, a rare disease affects fewer than 200,000 persons. Japan says fewer than 50,000; South Korea says fewer than 20,000; Europe and Australia define rare as 1 in 2,000.(4) In India, there is still no national definition of a rare disease. Still, the National Policy for Rare Diseases (NPRD) has identified three groups of rare diseases based on their treatability, treatment availability, and status. The Drug Controller General of India (DCGI) considers any disease affecting fewer than 500,000 Indians as rare for orphan drug considerations. Inconsistent terminology and definitions breed confusion and create inconsistencies in diagnosis and treatment access.

Healthcare workers and researchers have limited data from unstandardized sources, impeding their ability to identify, quantify, and treat patients with rare diseases.(2) Patient registries and natural history studies are crucial for accelerating clinical research, drug discovery and development, the improvement of patient care, and healthcare planning.(4) They allow researchers and clinicians from around the world to aggregate otherwise scarce data.

Individuals living with rare diseases also bear a high-cost burden, including direct non-healthcare costs such as rides or caregivers, indirect costs such as early retirement, health insurance, and possible travel costs if adequate health care is unavailable locally. Rare diseases are often difficult to diagnose. In addition to the economic and physical toll, living with a rare disease can burden the emotional and mental health of affected individuals. Many suffer through a diagnostic odyssey of 5-7 years (on average) while their condition gets worse.(5)

The solution to the considerable economic and social challenges presented by rare diseases is global collaboration.(6) The problem is too significant, and data is too rare for individual countries to tackle it effectively. There is an urgent need to solve the heavy personal, social, and financial burdens caused by untreated and unidentified rare diseases for an estimated 475 million individuals globally.(6) Data sharing and collaborative research can improve treatment access and decrease the worldwide economic burden.

IndoUSrare’s primary focus is on collaboration with researchers in the United States and other western countries with their counterparts in the Indian subcontinent to engage and include the large and diverse populations of Indians in India and globally. The Indian diaspora, or a large population with clear genetic lines and diverse environmental conditions, can vastly benefit from the diversity and effectiveness of clinical trials, particularly as several rare diseases are related to a change in a single gene.(1)

IndoUSrare’s efforts are committed to accelerating research of rare diseases and the development of effective treatments. By creating collaborative bridges, they hope to improve equity, inclusion, and access to life-saving therapies for rare disease patients of every age and around the world. Ultimately, patient groups and academic researchers need to collaborate with industry partners to bring treatments through the regulatory approval process.

The IndoUSrare Corporate Alliance includes biopharmaceutical, medical device, and other companies in the life science industry involved in orphan product development. Membership in the Alliance demonstrates a commitment to the mission of IndoUSrare, which is to “educate, empower and advocate for patients with rare diseases in the United States, India, and globally by fostering collaboration and filling critical gaps towards accelerating diagnostics and therapies.”

With the Corporate Alliance, IndoUSrare is forging collaborations among various stakeholders to leverage shared resources across borders for the cost-effective advancement of research and development to bring more effective and better treatments to the individuals living with rare diseases in our community.

About IndoUSrare
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.

References: 
1. Tisdale, Ainslie; Cutillo, Christine; Nathan, Ramaa; Russo, Pierantonio; Laraway, Bryan; Haendel, Melissa; Nowak, Douglas; Hasche, Cindy; Chan, Chun-Hung; Griese, Emily; Dawkins, Hugh; Shukla, Oodaye; Pearce, David A.; Rutter, Joni L.; Pariser, Anne R. “The IDeaS initiative: pilot study to assess the impact of rare diseases on patients and healthcare systems.” October 22, 2021, Orphanet Journal of Rare Diseases, ojrd.biomedcentral.com/articles/10.1186/s13023-021-02061-3.
2. Garrison, Sheldon; Kennedy, Annie; Manetto, Nick; Pariser, Anne R.; Rutter, Joni L.; Yang, Grace. “The Economic Burden Of Rare Diseases: Quantifying The Sizeable Collective Burden And Offering Solutions.” February 1, 2022, HEALTH AFFAIRS FOREFRONT, healthaffairs.org/do/10.1377/forefront.20220128.987667/.
3. Richter, Trevor; Nestler-Parr, Sandra; Babela, Robert; Khan, Zeba; Tesoro, Theresa; Molsen, Elizabeth; Hughes, Dyfrig A. “Rare Disease Terminology and Definitions—A Systematic Global Review: Report of the ISPOR Rare Disease Special Interest Group.” August 18, 2015, Value in Health, Volume 18, Issue 6, September 2015, Pages 906-914, sciencedirect.com/science/article/pii/S1098301515019798.
4. Rubinstein, Yaffa R; Robinson, Peter N; Gahl, William A; Avillach, Paul; Baynam, Gareth; Cederroth, Helene; Goodwin, Rebecca M; Groft, Stephen C; Hansson, Mats G; Harris, Nomi L; Huser, Vojtech; Mascalzoni, Deborah; McMurry, Julie A; Might, Matthew; Nellaker, Christoffer; Mons, Barend; Paltoo, Dina N; Pevsner, Jonathan; Posada, Manuel; Rockett-Frase, Alison P; Roos, Marco; Rubinstein,Tamar B; Taruscio, Domenica; van Enckevort, Esther; Haendel, Melissa A. “The case for open science: rare diseases.” September 11, 2020, JAMIA Open, Volume 3, Issue 3, October 2020, Pages 472–486, academic.oup.com/jamiaopen/article/3/3/472/5904414.
5. WEForum Reports. “Global Data Access for Solving Rare Disease: A Health Economics Value Framework.” February 26, 2020, World Economic Forum, weforum.org/reports/global-access-for-solving-rare-disease-a-health-economics-value-framework#report-nav
6. Salyer, Kirsten. “New Framework to Provide Global Approach to Solving Rare Diseases.” February 26, 2020, World Economic Forum, weforum.org/press/2020/02/new-framework-to-provide-global-approach-to-solving-rare-diseases.

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