Breaking Barriers in Rare Disease Research and Drug Development – Insights from IndoUSrare’s Rare Disease Day Event

The number of known rare diseases is increasing each year as genome sequencing technology has slowly, but surely improved. There are an estimated 7,000 to 10,000 rare diseases today, with some being so rare that only a handful of people on the planet are known to have the condition.

Globally, there are approximately 350 million people who have been affected by a disease that has been classified as “rare,” which in the United States is defined as a disease or condition that affects less than 200,000 people in the country. In Europe, a disease is defined as rare if it affects fewer than 5 in 10,000 people across the European Union. Rare diseases impact populations across the globe, but despite that wide swath of known patients, the majority of clinical work is conducted in the United States and the European Union. There is a lack of diversity within the patient populations being tested for potential therapies, including cutting-edge gene therapies.

That lack of diversity is something that Herdon, Virginia-based IndoUSrare hopes to improve upon through greater collaboration between U.S. researchers and pharmaceutical companies and their counterparts in India. During a recent Rare Disease Day roundtable, the company highlighted the lack of need to include greater presentation of Indian patients in rare disease trials. In the nation of India, there are thousands of different rare diseases impacting the citizens of that country, with estimates suggesting that the diseases affect nearly 20% of that nation’s population. However, less than 5% of these rare diseases have known treatments.

IndoUSrare, driven by Harsha Rajasimha, founder and chairman of the nonprofit organization who himself lost a child to rare disease in 2012, has spearheaded the effort to bring together a coalition of rare disease advocates from across the globe.

While he advocates for the global community, Rajasimha is particularly focused on bridging gaps around diversity, equity, and inclusion, and engaging the Indian diaspora, which is comprised of more than 1.4 billion people spread across the globe. Rajasimha said the diaspora are an underrepresented minority within the clinical research and drug development process – particularly in rare diseases.

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“India has scientific, pre-clinical, and technology resources that are complementary to the clinical research and 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,” he said.

Frank Sasinowski, Director of Hyman, Phelps & McNamara, a Washington, D.C. law firm specializing in regulatory management strategies, expressed hope for a global collaboration that will benefit rare disease patients in India, a nation that has largely been underserved in clinical programs. Sasinowski, a keynote speaker during the IndoUSrare program, highlighted the devastating impact of rare diseases on families in the U.S. Starting with the difficulty of a confirmed diagnosis of a rare disease, which can sometimes take years to receive following some false diagnoses, Sasinowski said receiving care can also be challenging due to lack of therapies or limited caregivers for certain diseases.

Not only that, rare diseases take a significant toll on their personal economic situations. He cited a recent survey from the EveryLife Foundation for Rare Diseases, also located in Washington, D.C., that suggests the economic impact of rare diseases in the United States is $966 billion. The surveyors assessed 15.5 million people affected by rare diseases in the U.S., which is about half the population of rare disease families, which means the economic impact could approach $2 trillion, Sasinowski said. Most of that economic impact comes from lost productivity.

“When we fail to help those with rare diseases, we miss out on those potential contributions… we are losing out on the contributions made by our sisters and brothers who have rare diseases,” he said.

Over the course of his career, Sasinowski has played a key role in helping secure the regulatory approval of treatments for rare diseases, including Novartis’ systemic gene therapy Zolgensma, a one-time therapy for spinal muscular atrophy approved by the FDA in 2019. During his presentation, Sasinowski pointed to another talk he gave on the importance of rare disease treatment and Zolgensma at the Vatican following the treatment’s approval. In the audience was Francis Collins, the (now former) head of the National Institutes of Health who led the international Human Genome Project, which conducted the first DNA sequencing in 2003. Zolgensma and other gene therapies would not have been possible without that effort.

Sasinowski showed photos of children who had been treated with Zolgensma. Following their treatment, the SMA patients were able to sit on their own, something they were not able to do prior to the administration of the therapy. A video of one boy was shown running around the halls of Nationwide Children’s Hospital in Ohio – something he never would have been able to do without the treatment. Sasinowski described a visually stunned Collins who sat in the front row of the presentation. He was weeping tears of joy as he witnessed the success of his life’s work.

The success of Zolgensma and the transformative impact it has shown in the lives of its patients highlights the growing number of rare disease treatments that are in development across the globe.

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, echoed the call for global advocacy in rare diseases. He said each country should have a national organization that advocates for patients with rare diseases. Summar lauded the work conducted by IndoUSrare to connect resources and expertise to benefit underrepresented patient populations.