Families in India face ongoing challenges when dealing with rare diseases

Every year, countless families in India struggle to provide care for family members with rare diseases. Until we achieve greater global collaboration and increased focus on orphan drug development, these families will face a harsh reality.

In India, an estimated 70 million people are living with a rare disease.(1) According to a recent report by RARE-X, there are approximately 10,867 known rare diseases worldwide. Most of these diseases are debilitating, permanent and often require expensive treatments. For families supporting a loved one with a rare disease, the outcome is often grim. Many families struggle with social stigma and limited access to specialized health care. Most pharmaceutical advances and treatments for rare diseases are developed in the Western world, making them out of reach even when available domestically due to their unusually high cost.

“Every year, countless families in India struggle to provide care for family members with rare diseases. Until we achieve greater global collaboration and increased focus on orphan drug development, these families will face a harsh reality,” said Dr. Harsha Rajasimha, Founder and President of the Indo-US Organization for Rare Diseases (IndoUSrare), a non-profit organization that seeks to bridge the gap in the world. with regard to rare diseases, especially in children.

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

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

Dr Inusha Panigrahi from the Department of Advanced Pediatrics Center, PGI – which deals with rare diseases – recently said: “There is an Indian government portal where private entities are donating for treatment. Awareness is so low that only Rs 65,000 has been donated in the last month A single injection for rare diseases like Spinal Muscular Atrophy (SMA) costs Rs 16 crore Now who will bear the cost of treating these patients Central Government also has limited resources.” (2 )

In May this year, the Rare Disease Unit of the Indian Ministry of Health and Family Welfare in New Delhi increased the grant for the treatment of rare diseases from Rs 20 lakh to Rs 50 lakh. This one-time rare disease treatment grant provides financial support to patients with all three groups of rare diseases as defined in the National Policy for Rare Diseases (NPRD). Some Centers of Excellence (CoE) have been notified and authorized in the NPRD 2021 to receive this money and prioritize patients for treatment.(3) However, most patients, pharmaceutical companies and primary care physicians do not are unaware of these resources. Omnichannel communications are key to raising awareness and building trust among different stakeholders. This requires resources and funding.

Due to these constraints, India continues to lag behind in health research data, patient registries, natural history studies and clinical research on rare diseases. It is estimated that compared to developed countries, India lags almost 40 years behind in recognizing the importance of tackling rare diseases.(4)

Further adding to the complexity of the situation for families in India, some rare diseases are not officially recognized by the NPRD, such as motor neuron diseases (MND) like ALS or Lou Gehrig’s disease. This makes it more difficult for Indian patients with these types of diseases to access government support, even when it is available.

To answer the cries of the millions of affected people in India, through IndoUSrare, Dr. Rajasimha and his team are actively building the necessary bridge between patients and government entities that can influence change. IndoUSrare has built a multinational alliance of over 50 synergistic organizations and recently added the Dr. Shyama Narang Foundation (MND Trust), a registered non-profit organization located in Bengaluru, India, to its growing network of collaborators.

“We are extremely pleased to collaborate with IndoUSrare as there is synergy in our mutual goals and objectives. Based at BRAINS Hospital, our common goal will see us find a cure for many of these rare diseases through ongoing collaborations with institutes and clinicians around the world,” said Vasanth Rao, Founding Trustee of the MND Trust. IndoUSrare and MND Trust will advocate for the addition of unrecognized rare diseases, such as MND/ALS, to the NPRD and the ICMR (Indian Council of Medical Research) National Rare Disease Registry IndoUSrare has connected at least two Indian MND/ALS patients with existing organizations with expertise and resources for these specific diseases. 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 uses a technology platform to scale its patient support and care navigation services. This platform will allow a growing number of patients to contact IndoUSrare for the latest information, expert connections and tools to help them better manage their specific medical conditions and quality of life. The platform can also connect them to clinical trials when plausible. “We are interested in collaborating with IndoUSrare to participate in any clinical trial or translational research related to rare and complex neurological disorders to ensure patients in India have the same opportunities and access at the same level as the western world,” says Dr. NK Venkatarama, Founding President of BRAINS, a super-specialty hospital focused on rare neurological diseases.

Additionally, as part of its broader mission to improve inclusion and diversity in clinical trials, IndoUSrare helps match Indian patients with rare diseases to ongoing clinical trials in the United States and around the world. the world. To learn more about the work IndoUSrare is doing to address the challenges faced by families with rare diseases in India and those in the Indian diaspora in the United States or globally, visit https://indousrare.org. Patients and families can submit a “Patient Contact Form” on the website to receive free information and navigation services from the organization.

The IndoUSrare team will present a poster at the NORD Summit in Washington DC on October 17-18.

About IndoUSrare

IndoUSrare is a 501(c)(3) tax-exempt non-profit public charity based in the United States. for more than ten years. To address the unmet needs of diverse rare disease patients around the world, the leadership team of experienced research, advocacy, regulatory and drug development professionals seeks to establish cross-border collaborations linking parties rare disease stakeholders in low- and middle-income regions. such as India, with their clinical counterparts and researchers in the United States to improve the diversity of clinical trial participants, accelerate research and development, and improve equitable access to lifesaving therapies for diverse rare disease patient populations. 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. “Tight Funding in IGP, Chandigarh Hampering Treatment of Rare Diseases.” April 2. https://www.tribuneindia.com/news/chandigarh/fund-crunch-in-pgi-chandigarh-hinders-treatment-of-rare-diseases-383085.

3. “Emergency need in the treatment of 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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