According to National Cancer Institute, an orphan drug is defined as a drug used to treat, prevent, or diagnose an orphan disease.ⁱ World Health Organization defines rare/orphan disease as a disease or condition with a prevalence of ?1/1000 population.ⁱⁱ For this very reason, orphan drugs do not enjoy adequate support and resources from the market. But these diseases are not as rare as one would think. Orphan diseases are often life-threatening hence treatment is critical, especially when the majority of the patients are children. Even though only five percent (5%) of rare disease is known to have a cure with the right treatment many patients can have an improved quality of life.ⁱⁱⁱ

Another option in front of the government is to execute government-based crowdfunding and this should be tax-free, transparent, and timely. Many children die every day just because crowdfunding is not being done in time.^xxiii Crowdfunding should also have government control as observed by Kerala High Court.^xxiv But a mechanism solely based on crowdfunding would not work. The Government of India has recently launched a portal for crowdfunding for rare diseases. However, this is not tax-exempt.^xxv This defeats the whole purpose of crowdfunding. Group 3 patients of orphan disease are completely left at the mercy of crowdfunding under the National Policy for Rare Diseases, 2021.^xxvi This is another blunder on the part of the Indian government.

As previously stated, rare diseases can include infectious diseases, genetic disorders and various types of cancers. Although there are more than 500 orphan drugs available and approved by various regulatory bodies, most of them remain ineffective for treatment purposes. With hundreds of new treatments entering the market over the last few years, it has further propelled the need for capital intensive research and development of the drugs, further encouraging the companies to invest further in such developments.

The US made a path-breaking law on orphan drugs, under the name the Orphan Drugs Act, 1983 under the regime of President Reagan and managed to successfully tackle the profit motive of the drug industry to the needs of the patient. With this legislation US was successful in approving approximately 10 drugs per year and more than 250 drugs have been approved so far with an intention to treat more than 2,00,000 people in the United States of America.^xxvii It is expected that the orphan drug market alone will cross USD 350 billion by 2028.^xxviii

Whereas in Europe, orphan drugs are all medical products the pharmaceutical industry would be unwilling to develop under the normal market conditions and is a condition that affects not more than 5 people in 10000 citizens. It is the European Medical Agency (EMA) and Committee on Orphan Medical Products that play central role in facilitating the development and authorization of medicines for ^xxixrare diseases^xxx In addition EU also established the Rare Disease Task Force in 2004 with European Commission Public Health Directorate to provide evidence to support the orphan drugs cause.^xxxi Australia also has a similar appropriate threshold for orphan drugs under its 1997 legislation.^xxxii Meanwhile Japan categorize Orphan Disease in the 1993 legislation as a condition that impacts less than 50,000 citizens (which is less than 3.9 per 10,000 individuals), coupled with the absence of adequate treatment and shows the development and needs for a new drug.^xxxiii In recent years countries like South Korea and Taiwan have made considerable progress in legislation. In fact, China is also actively making new regulations for orphan drugs.^xxxiv The Taiwan government has identified more than 160 rare diseases and developed 77 orphan drugs and 40 special nutrients for the treatment of rare diseases. The Taiwan Centre for Rare Disorders was established in 1999 with the motive to help patients Meanwhile South Korea legislated its orphan drugs Guidelines back in year 2003 and identified it rare disease that affects fewer than 20,000 people and stipulated exclusive marketing rights for 6 years to encourage medical research and development of orphan drugs.^xxxv In addition it also established the Korean Rare Disease Information Database as well as Korean Organization for Rare Diseases to provide vast information on companies, researchers and patients.^xxxvi Meanwhile China does not have any clearly defined legislation till now, but it has its own networks like Rare Disease in China Network and Chinese Rare Disease Academic Network. Similarly, Argentina, Egypt, Brazil and Algeria had a robust mechanism for reimbursement and allocation of funds from the healthcare budget for rare disease-related matters.

Despite severe child mortality associated with rare diseases, India’s ambitious Ayushman Bharat does not have any provision to integrate the draft policy and effectively implement it. Meanwhile, the 2021 Budget as well as the 2022 budget shunned the orphan drugs blatantly and made no allocation for such plans despite one-fifth of its population suffering from it.^xxxvii The existing National Policy for Rare Disease, embraces a very minimalist approach and maintains the position that it is a state matter. To add on, the policy also backed a parallel mechanism of the Indian Council for Medical Research formulation of the National Registry. Though the registry was implemented in 2017, it is yet to start nationwide data collection so that patients benefit from it. So in toto, the orphan drugs access were further orphaned by the draft policy and further caged by the National Registry. This coupled with our country’s rustic health care creates unavailability of testing, prolonged diagnosis, limited access to specialists further worsens the misery. Though in general cases, early diagnosis can improve possibilities of survival and open doors to life-saving therapy, there is no ray of hope for Indian rare disease patients. The papers of draft policy are also silent on the inclusion of patients in International clinical trials. Under the draft policy the government has categorized patients into three groups. The first group comprises of people who would benefit from one-time curative treatment and the second group consists of people who need life-long treatment. Whereas the third group is concerned with people who would require long term life-saving treatment where the cost of the treatment is highly unaffordable and the treatment of patients in this category is relatively uncertain as per the draft.^xxxviii For the first category patients, the central government will provide an assistance of Rs.20 lakhs through its schemes, Pradhan Mantri Aarogya Yojana and Rashtriya Aarogya Nidhi, provided that the patient belongs to the bottom 40% of the economy. The treatment involved is generally one-time curative treatment. For the second category patients, it is suggested that the states could consider patients falling under this category. There is no element of clarity in this categorization. The most problematic categorization happened with the third, which shook the rare diseases community, where the government has provided a straight jacket solution and resorted to digital crowdfunding platform because of “resource constraints”. Practically analysing, the government diplomatically requested the third category to beg for donations for their treatment and receive donations. It is important to note here that crowd funding was always an option since the beginning and when the government doors shut, families resorted to it. The draft policy didn’t make any improvement to the present situation of Group 3 patients and hence the new government portal has no effect or null in improving the existing circumstances.

In addition, there is no law in India or provision in the draft policy exempting the drugs that are used to treat rare genetic diseases from ‘price control’. This aspect is very important considering the nature of the drug market is oligopolistic and often there is a tendency to jack up the price of orphan drugs. For example, there was a global outrage when the price of Daraprim, the life-saving drug that treats the liver that does not produce bile acids, were shot up from $13.50 per pill to $750 per pill.^xxxix To worsen it further, this hike of 5000% was further approved by the US Food and Drug Administration.^xl

As per data available, almost 300 million people are suffering from rare diseases and with more than 7000 rare diseases out of which 450 have been found in Indians.^xli With the help of the draft policy the Indian Government has made an allocation of Rs.20 lakh through its umbrella scheme of Rashtriya Arogya Nidhi.^xlii Recently in the case of Master Arnesh Shaw v. Union of India and Anr.,^xliii Justice Pratiba M Singh directed the Centre to finalize the National Policy for Rare Disease as the revised policy raised questions on matters relating to sharing of expenditure and cost-effectiveness between the centre and the state. The judgement also stated that the draft policy has not seen the light of the day despite being introduced for consultation in 2020^xliv and further stated that the treatment of children with rare diseases is a fundamental right under the ambit of Article 21 as “Right to Health and Health Care”. The bench also observed that the Centre cannot wipe their hands clean in matters involving rare diseases and contend that they cannot be made a party to the proceeding.

The Delhi High Court constituted the Renu Swarup Committee expert committee on 12^th March 2021, which requested the Union of India to specify its budget of health in the preceding 5 years and also show details of the amount unused so that the same can be contributed to the treatment of rare disease and indigenous development of therapies for treatment. The committee also suggested the constitution of National Consortium for Research and Development on therapeutics for rare diseases further effectuated by the draft policy in papers. The committee also suggested the formation of the National Expert Committee on Rare Diseases to evaluate the progress of research and provide advice on matters pertaining to orphan drugs and rare diseases.

One interesting observation, in this case, was the submission of accounts details of the Ministry of Health and Family Welfare. The affidavit showed that Rs.200 crores were allocated for the purpose of the expenditure in respect of rare disease, out of which the total expenditure was merely Rs.7 crores over the last three years.^xlv This showcased the failed mechanism of fund allocation for thousands of children and the parents out there seeking help for treatment.

Recently, in the case of Arif v. State of Kerala and Ors^xlvi, the bench headed by Justice P.B Suresh Kumar directed the Centre and State to disseminate guidelines to overview the crowdfunding scheme. The court commented that “every Tom and Harry out there might be collecting funds with ill-motive via crowdfunding and the amount might be getting deposited in private accounts.” The court noted that the amount raised often is so huge amounting in crores, that is enough to stifle the economy if not properly regulated by the government.

The government should work towards the actual establishment of the National Consortium for Research and Development on therapeutics for Rare Diseases and the National Expert Committee on Rare Diseases. The government should make sure that the treatment and funding are streamlined in such a way, that patients should not be unnecessarily dragged into the realms of litigation to get some relief from the government. The assistance should reach the needy on time. It is also important that the government sees the allocated funds for rare diseases reach the correct hands-on time and the budget is effectively utilized. As stated by the Kerala High Court it is also very important that there is a government overview in crowdfunding for these treatments and to remove the corruption involved, if there is any. The groundbreaking Technology of CRISPR Cas9 (Clustered Regularly Interspaced Short Palindromic Repeats) used for genome editing is raising new hopes for the rare disease community. The government should try employing this technology within the specified ethical means to help rare disease patients.