Rare Disease Day is a few weeks away, and to commemorate the same, we at WWGM have been working on a campaign to disseminate information about the current state of rare disease in India, and the way forward. In this post we write about the most important takeaways from our research :

Diagnosis : We spoke to members of the community who expressed difficulty in arriving at a correct diagnosis, with the time duration of a diagnosis not being in days but years. They pointed out the lack of knowledge about rare diseases amongst the medical community. They suggested that doctors counsel patients better about their rare disease diagnosis, and when it comes to prescribing any medication, take into consideration their side effects. The practice of overcharging patients for simply handing out multi-vitamin supplements should not be allowed.

Prevalence and availability of treatment : There are over 7000 rare diseases globally. Treatments are not available for 95% of rare diseases, and only 1 out of 10 people diagnosed globally receive disease specific treatment. The costs for treating rare diseases are prohibitively high; for instance gene therapy for spinal muscular dystrophy stands at INR 16 crores for a single dose.

Public expenditure on R&D : In India, government spending on healthcare R&D stands at 5.5%, as compared to over 20% in the UK & US.

Barriers to access : Low prevalence of a rare disease, and high production and R&D costs for pharmaceuticals make corporations hesitant to invest in treatments. Indian companies make little investment in R&D considering the high risks involved. There are also multiple approvals involved to conduct clinical trials in India; it takes approximately 30-90 working days for each approval, and they need to be obtained at every phase of the trial before proceeding to the next one. While the New Drugs and Clinical Trials Rules, 2019 have provisions to expedite the approval process for orphan drugs,(intended for encouraging market entry of rare disease drugs into India), there are still next to no innovations by Indian pharma in rare diseases.

Financing costly treatments : From a policy perspective, the National Rare Disease Policy, 2021 provides two options for funding treatment: The government will provide a cover of up to INR 20 lakhs for those diseases that have a one-time affordable treatment, however those rare diseases not falling in this category, and which may require lifetime treatment, must pursue crowdfunding as a means of financing. Most rare diseases (including GNE Myopathy) find no place in the policy as there are no treatments for them. The policy also lacks an implementable framework for drug development in India. 

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