Families in India Face Ongoing Challenges When Coping With Rare Diseases

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In India, millions of families are facing the difficulty of caring for a loved one with a rare disease and have limited access to necessary treatments. Dr. Harsha Rajasimha, Founder and Chairman of IndoUSrare, explains the need for increased global collaborations to accelerate rare disease clinical trials and make them more inclusive and accessible to patients everywhere.

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Every year, countless families in India struggle to provide care to family members with rare diseases. Until we achieve greater global collaboration and an increased focus on developing orphan drugs, these families will be left facing a harsh reality

In India, an estimated 70 million people are living with a rare disease.(1) According to a recent report from RARE-X, there are about 10,867 known rare diseases in the world. Most of these maladies are debilitating, life-long, and often require costly treatments. For families supporting a loved one with a rare disease, the outcome is often bleak. Many families struggle with social stigma and limited access to specialized healthcare. Most pharmaceutical advances and treatments for rare diseases are developed in the western world, making them out of reach, even when they are available in the country, due to their abnormally high cost.

"Every year, countless families in India struggle to provide care to family members with rare diseases. Until we achieve greater global collaboration and an increased focus on developing orphan drugs, these families will be left facing a harsh reality," according to Dr. Harsha Rajasimha, Founder and Chairman of the Indo-US Organization for Rare Diseases (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.

Dr. Rajasimha lost a child to a rare disease in 2012 and has been a global rare disease advocate for more than ten years. In response to growing concerns in India, Dr. Rajasimha formed IndoUSrare in 2019. IndoUSrare aims to foster and support global collaboration to accelerate progress toward successful prevention, diagnosis, treatment, and management of rare diseases.

For families in India, there is a great sense of urgency when it comes to the treatment of rare diseases. Early diagnosis and intervention have the power to save lives and allow those with rare diseases the chance to enjoy a better quality of life. However, patients' and families' awareness of experts and resources available within the country and in the US/EU is extremely limited.

Dr. Inusha Panigrahi from the Department of Advanced Pediatrics Centre, PGI — who deals with rare diseases — stated recently, "There is a portal of the Government of India where private entities donate funds for the treatment. The awareness is so low that only Rs 65,000 were donated in the past month. A single injection for rare diseases like spinal muscular atrophy (SMA) costs Rs 16 crore. Now, who will bear the cost of treatment for such patients? The Central Government also has limited resources."(2)

In May of this year, India's Union Ministry of Health & Family Welfare Rare Diseases Cell in New Delhi raised the rare disease treatment grant from Rs 20 lakh to Rs 50 lakh. This one-time grant for the lifelong treatment of a patient's rare disease provides financial support to patients with all three groups of rare diseases as defined in the National Policy for Rare Diseases (NPRD). Select Centers of Excellence (CoEs) were notified and authorized in the NPRD 2021 to receive this money and prioritize patients for treatment.(3) However, most patients, pharma companies, and primary care doctors are unaware of these resources. Omnichannel communications are critical for raising awareness and building trust among various stakeholders. This requires resources and funding.

Due to these constraints, India continues to fall behind in health research data, patient registries, natural history studies, and clinical research for rare diseases. It is estimated that compared to developed countries, India is lagging by nearly 40 years in recognizing the importance of combatting rare diseases.(4)

Further adding to the complexity of the situation for families in India, some rare diseases are not officially acknowledged by the NPRD, such as Motor Neuron Diseases (MNDs) like ALS or Lou Gehrig's Disease. This makes it harder for patients in India with these types of diseases to access government support even when available.

To answer the cries of the millions affected in India, through IndoUSrare, Dr. Rajasimha and his team are actively building the necessary bridge between patients and government entities that can affect change. IndoUSrare has been building a multinational alliance of over 50 synergistic organizations and recently added Dr. Shyama Narang Foundation (MND Trust), a registered, not-for-profit organization located in Bengaluru, India, to their growing network of collaborators.

"We are extremely happy to collaborate with IndoUSrare as there is synergy in our mutual goals and objectives. Headquartered at the BRAINS Hospital, our common purpose will lead us to find a cure for many of these rare diseases through persistent collaborations with research institutions and clinicians worldwide," said Vasanth Rao, Founder Trustee of the MND Trust. IndoUSrare and MND Trust will advocate for the addition of unacknowledged rare diseases, such as MND/ALS, to NPRD and the ICMR (Indian Council of Medical Research) National Registry for Rare Diseases. IndoUSrare has connected at least two Indian patients with MND/ALS with existing organizations with expertise and resources for these specific diseases. There is an urgent need for scalable technology platforms that can help establish new disease-specific or broader high-quality patient registries and natural history studies for rare diseases in India.

IndoUSrare is utilizing a technology platform to scale their patient support and care navigation services. This platform will enable a growing number of patients to contact IndoUSrare for the latest information, expert connections, and tools to help them best manage their specific medical conditions and quality of life. The platform can also connect them to clinical trials where plausible. "We are interested in collaborating with IndoUSrare to take part in any clinical trials or translational research related to rare and complex neurological disorders to ensure patients in India have the same opportunities and access at par with the western world," says Dr. N K Venkatarama, Founder Chairman of BRAINS, a super-specialty Hospital focused on rare neurological diseases.

Additionally, as part of its greater mission to improve inclusion and diversity in clinical trials, IndoUSrare is helping to match Indian patients living with rare diseases to clinical trials going on in the U.S. and globally. To learn more about the work IndoUSrare is doing to combat the challenges facing families with rare diseases in India and those in diaspora from India in the US or globally, visit https://indousrare.org. Patients and families can submit a "Patient Contact Form" on the website to receive free informational and care navigation services from the organization.

The IndoUSrare team will be presenting a poster at the NORD Summit in Washington DC on October 17th & 18th.

About IndoUSrare
IndoUSrare is a humanitarian non-profit 501(c)(3) tax-exempt public charity organization based in the U.S. 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 ten 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 U.S. 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.

1. Deeksha, Johanna. "India's abandonment of families living with a child's rare disease." January 2022. https://scroll.in/article/1015343/indias-abandonment-of-families-living-with-a-childs-rare-disease.
2. Mishra, Naina. "Fund crunch in PGI, Chandigarh, hinders treatment of rare diseases." April 2. https://www.tribuneindia.com/news/chandigarh/fund-crunch-in-pgi-chandigarh-hinders-treatment-of-rare-diseases-383085.
3. "Need for urgency in treatment for rare diseases." Times of India Blog. (2022, August 9). Retrieved October 3, 2022, from https://timesofindia.indiatimes.com/blogs/voices/need-for-urgency-in-treatment-for-rare-diseases/
4. Mona and Shubhangi Patel. "Rare Diseases in India: 'Orphan' No More?" July 2022, Observer Research Foundation. https://www.orfonline.org/research/rare-diseases-in-india-orphan-no-more/

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