Addressing Massive Health Inequities on Rare Disease Day

HERNDON, Va., Feb. 22, 2022 /PRNewswire-PRWeb/ -- Rare diseases affect an estimated 350 million people globally spanning more than 7,000 known conditions. And while each of these diseases is indeed rare, as a whole they affect approximately one in ten people in the United States.(2) More than half of those who receive a rare disease diagnosis are children. Of those children, nearly one in three will die by the age of five. About 80 percent of rare diseases have an underlying genetic basis.(1) As access to genetic testing and sequencing continue to expand, the number of identified rare diseases keeps growing. "Every year, approximately 200 new rare diseases are discovered because new disease-associated genetic mutations are identified due to advances in genome sequencing technology." according to Dr. Harsha Rajasimha, Founder CEO of Jeeva Informatics and Founder Chairman of IndoUSrare, a not-for-profit organization that seeks to bridge the gap that exists in the world when it comes to rare diseases, specifically in children.

Rajasimha, who lost a child to a rare disease in 2012, has been a rare disease advocate for more than ten years now. Rajasimha applied his post-doctoral research experience at the National Institutes of Health (NIH), along with his years of healthcare and life science industry experience, and founding and serving multiple nonprofits, to form IndoUSrare in 2019. The organization's purpose is to foster and support global collaboration to accelerate progress towards successful diagnosis, treatment, and prevention of rare diseases.
"The Undiagnosed Diseases Network International (UDNI) seeks to advance the diagnosis of rare and undiagnosed diseases throughout the world. As a member of the UDNI, IndoUSrare is a valued collaborator in this international effort," states William A. Gahl, M.D., Ph.D., Clinical Director, for the National Human Genome Research Institute (NHGRI) and a member of the UDNI Governing Board.

The real epidemiology of most rare diseases is unknown, and it is hard to assess the prevalence and incidence of a rare disease particularly in resource constrained countries. "We are working together with IndoUSrare to advance epidemiology research on rare diseases under a Memorandum of Understanding (MoU) which calls for out of the box thinking and non-traditional approaches," says Dr. Archisman Mohapatra, Executive Director, Generating Research Insights for Development (GRID) Council.

One significant challenge that rare disease communities face is the creation of national and global patient registries to enable a better understanding of a rare disease's natural history. Natural history allows clinicians to comprehend the various stages of a rare disease, how symptoms vary from patient to patient or within the same patient over a period of time as the disease progresses, and the effectiveness of potential treatment options.

"We were honored to collaborate with IndoUSrare conducting a feasibility study addressing the need for patient-owned data collection programs in India and what is needed to support this type of initiative. Our report was published in April 2021. Now, we are announcing our expanded support of patient-centered data collection and international data governance for patient-owned and stewarded data supporting patients/patient advocates of Indian descent," says Nicole Boice, Founder RARE-X.

Also, there can be a disconnect between what results are clinically significant for patients, and what experts consider to be important results. This is where patient advocacy comes in. Rajasimha points out that since half of rare diseases are pediatric, it's the child's parents who are the advocates for timely diagnosis and affordable treatments.

There have been government incentives to accelerate the development of treatments for rare diseases, such as the US FDA Orphan Drug Act of 1983.(3) "Orphan drugs" refer to pharmaceutical treatments for which the target patient population is fewer than 200,000 in the US. And through research for rare diseases, effective treatments for more common illnesses are also being discovered along the way.(2) Because most (~95%) rare diseases do not have any FDA approved treatment, the best thing that can happen to a patient with any such rare disease is to enroll in a clinical trial for an investigational new therapy such as a gene therapy.

"Every country needs a national organization advocating for patients with rare disorders. We saw enormous progress in the US in the last 38 years after Orphan Drugs regulations were adopted. IndoUSrare is connecting resources and expertise across international borders by building the much-needed collaborative bridges between silos," says Dr. Marshall Summar, Director of Clinical Research at the Rare Disease Institute of the Children's National Medical Center, and Chairman of the National Organization for Rare Disorders (NORD).

"We commend the mission and enormous undertaking of IndoUSrare in educating the Indian diaspora about rare diseases and connecting them with experts, resources, and access to global clinical trials. We need more collaboration and engagement with our international partners. No country or organization can do it all." says Craig Martin, CEO, Global Genes.

Rajasimha is particularly focused on bridging gaps around diversity, equity, and inclusion, and engaging the Indian diaspora. "The Indian diaspora is comprised of more than 1.4 billion people spread globally who continue to be an underrepresented minority within clinical research and drug development process - particularly in rare diseases," Rajasimha explains. "India has scientific, pre-clinical, and technology resources that are complementary to the clinical research & development ecosystem in the U.S. About half of all global clinical trials are conducted in the U.S. When the Western rare disease community collaborates and engages with the Indian subcontinent, patients win, science wins, we all win!"

IndoUSrare does not do the research themselves. Rather, they seek to be the connecting glue between rare disease patients and the 29 organizations among their current patient alliance members that deal with over 500 rare diseases. And this enables IndoUSrare to build global connections between organizations, stakeholders, physicians, researchers, etc. to gather data, help connect patients with clinical trials investigators and work towards improving the diagnosis and treatment of rare diseases.

"The next generation of basic and translational researchers need to align with the paradigm of patient focused drug development (PFDD). Practice of consanguinity and endogamy are the primary cause for large number of rare genetic disorders in India /South Asia. Population-based genetic studies would help in identifying a genetic cause and support evidence for family counseling. The genetic diversity of the Indian population may hold the key to developing therapies for many rare diseases," says Dr. K Thangaraj, Director, Centre for DNA Fingerprinting and Diagnostics (CDFD), Department of Biotechnology (DBT), Ministry of Science & Technology, Government of India.

All stakeholders of rare diseases are invited to the upcoming RDD@IndoUSrare virtual event, Celebrating 30 Years of Rare Disease Treatment, on February 28 for the International Rare Disease Day. Keynote speaker Frank Sasinowski, MS, MPH, JD, Director at Hyman Phelps McNamara P.C., and Founding board member, IndoUSrare, is expected to commemorate the immense progress the rare disease community has achieved since the first major orphan therapy for a rare disease (Gaucher) was approved by the US FDA in 1992, and honors the struggles of all rare disease patients around the world.

"We are grateful to the advocates from IndoUSrare who will join us again this year for Rare Disease Week on Capitol Hill," said Annie Kennedy, EveryLife Foundation for Rare Diseases Chief of Policy, Advocacy, and Patient Engagement. "They will be joined by nearly a thousand rare disease patients, caregivers, and stakeholders from across the U.S. who will make their voices heard by their representatives in Congress. The IndoUSrare advocates bring a collaborative approach and inclusive perspective that is vital in our mission to advance the equitable development of and access to lifesaving diagnoses, treatments, and cures. We are honored to support them in their efforts to leverage resources worldwide to address rare disease as a global public health issue."

"Rare diseases affect people everywhere. A majority of them are genetic in origin, some of them are dependent on the weather and other environmental factors, et cetera. But the key thing is that they are a global public health concern and can affect anyone. We can't be working in geographic silos."

About IndoUSrare:
IndoUSrare is a humanitarian non-profit 501(C)(3) tax-exempt public charity organization based in the US, which addresses the unmet needs of diverse patients with rare diseases globally. With an initial focus on the Indian diaspora, their goal is to build cross-border collaborations to connect stakeholders of rare diseases in low- and middle-income regions—such as India—with their counterparts and clinical researchers in the US. This would allow 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.

1. Boycott, Kim M., Lau, Lilian PL, et al; "International Collaborative Actions and Transparency to Understand, Diagnose and Develop Therapies for Rare Diseases"; National Center for Biotechnology Innovation; Accessed February 9 2020; ncbi.nlm.nih.gov/pmc/articles/PMC6505568/
2. "Rare Diseases Deserve Our Attention"; National Institute for Children's Health Quality; nichq.org/insight/rare-diseases-deserve-our-attention
3. Boilerman, Cody J. "Common Problems in Clinical Trials for Rare Diseases"; The Association of Clinical Research Professionals; May 11 2020; acrpnet.org/2020/05/11/common-problems-in-clinical-trials-for-rare-diseases/

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