Gladstone D’Costa
The inspiration for this topic came, unfortunately, from a young acquaintance in his thirties who succumbed to Bud Chiari syndrome. This is a rare disease occurring in 0.2 to 2 per million in the general population; with Asians accounting for the upper end of the range.
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It affects the veins which return blood from the liver back to the inferior vena cava, the main venous return to the heart; and can occur with or without a causative factor.
Doppler ultrasonography is the initial test of choice and usually helps confirm the diagnosis. A CT or MRI can be helpful; or lastly venography. All of these require experienced investigators; a difficult proposition considering the rarity of the condition. Both diagnosis and treatment being difficult, the condition most often ends in liver and/or multi-organ failure.
There are multi-factorial issues in the management of rare diseases. The WHO defines a rare disease as a debilitating, lifelong condition that affects 1 or fewer people in 1,000. Being rare, the patient pool is very small, hence research is difficult.
Pharmaceutical companies are reluctant to invest in research for rare diseases because the number of patients being small, it takes time and increases costs. Therapeutic trials as mandated to ensure safety of medication are a problem again due to the small patient pool.
When research does result in therapeutic medicines, the market being small, the drugs are very expensive to recover costs incurred to put the drug on the market. Specific therapies are available for less than 5% of rare diseases, resulting in less than 1 in 10 patients receiving disease-specific care.
Drugs for rare diseases are referred to as “orphan drugs”. Many medicines and therapies for such diseases are patented, which again makes them very expensive. As the market for these drugs is small and the development costs high, pharmaceutical companies often don’t find it profitable to produce them, pushing up prices.
Around 63 medical conditions are classified as rare diseases in India. The National Registry for Rare and Other Inherited Disorders (NRROID) started by the Indian Council of Medical Research (ICMR) has the records of 14,472 rare disease patients in the country.
In India, rare diseases are categorised into three groups based on the nature and complexity of available treatment options. Group 1 includes diseases that can be treated with a one-time curative procedure. This includes stem cell transplants and organ transplant for example kidney, and liver transplants either individually or in combination.
Group 2 diseases require long-term or lifelong treatment which are relatively less costly and have shown documented benefits, in literature. However, these patients need regular life-long check-ups. Group 3 diseases are those for which effective treatments are available, but they are expensive and often continue lifelong.
There are challenges in selecting the right beneficiaries for these treatments. Within this group lie diseases for which the cost of treatment is very high and either long term follow-up literature is awaited or has been done on small number of patients
Fortunately, we do have a “National Policy for Rare Diseases (NPRD) 2021” which provides some guidelines for managing such cases. 12 Centres of Excellence (CoEs) have been designated so far, which are premier Government tertiary hospitals with facilities for diagnosis, prevention and treatment of rare diseases. These include, for example, AIIMS at Delhi, Bhopal and Jodhpur, and PGIMER, Chandigarh.
In August 2024, the government told Parliament that financial assistance of Rs 24 crore had been released to CoEs for treating rare disease patients until August in the current financial year. Further, Rs 35 crore has been released for purchasing equipment to improve patient care services.
Financial support of up to Rs 50 lakh per patient is provided for treatment at the notified Centres of Excellence (CoEs) for Rare Diseases.
Since the launch of the policy, a total number of 1,118 patients have benefited under NPRD. Patients can approach any CoE across the country and get registered, as per their convenience. Drugs used for the treatment of rare diseases through CoEs are exempt from GST and basic customs duty if imported by patients. But if companies bring these drugs to India, they pay 11% customs duty and 12% GST.
Delhi High Court has now set a deadline of 30 days to process the necessary exemptions for these medicines under the customs, GST, and Income Tax laws. Unfortunately, while the Centre provides financial assistance to various CoEs for treatment, stakeholders have often had to go to court to highlight challenges in accessing funds.
The Health Ministry opened a Digital Portal for Crowdfunding & Voluntary Donations with information about patients and their rare diseases, the estimated cost of treatment, and bank details of the CoEs.
Donors can choose the CoE and patient treatments they wish to support. Each CoE also has its own Rare Disease Fund, which is used with approval from its governing authority. On January 3, 2019, the Department of Pharmaceuticals under the Union Ministry of Chemicals and Fertilisers issued an order freeing orphan drugs from price controls.
In spite of all the commendable efforts made by the government, there still remain some areas which could be tweaked to help these unfortunate patients. Drugs should be made universally free from any import duty, GST and given tax exemptions and benefits.
Research in these conditions should be encouraged by making expenditure in such research tax deductible. Many of these drugs are patented.
The government should enable local manufacture of these drugs by special legislation and tax incentives. The cost can drop by up to 85%, with significant impact as therapy is usually life-long.
Rare diseases are also saddled with profound and extensive social issues, hence cannot be left to the vagaries of the pharmaceutical industry; they need assistance.
(The author is a Past State president of the IMA; a founder member and past President of the VHAG, and member of the VHAI
National Committee and a healthcare activist)
