Rare Diseases; Orphan Drugs

There is a need for a nationwide policy on the treatment of rare diseases that incentivizes the development of orphan drugs


In 2013, the Delhi high court heard a petition by Mohammed Ahmed, the seven-year-old son of a rickshaw-puller afflicted with Gaucher disease, a hereditary disorder caused by the absence of an enzyme that breaks down fat. Without this enzyme, fat builds up all over the body, resulting in bone pain, anaemia and eventually death.

Mohammed can never be completely cured but with enzyme replacement therapy, he can live as close to a normal life as possible. Unfortunately, the therapy costs Rs6 lakh a dose, and must be administered once a month, every month for the rest of his life. This was well beyond the financial resources of his family and the petition to the high court was a plea for help.

Gaucher is one of about 7,000 “rare” diseases that afflict less than 6% of the global population. Given the low volumes at which the drugs needed to treat such diseases would be consumed, pharmaceutical companies have little commercial incentive to produce them.

In 1983, the US government passed the Orphan Drugs Act to stimulate research in the treatment of diseases that have been largely ignored by the pharmaceutical industry. Similar laws have been enacted in Japan, Australia and the European Union. All these laws offer incentives such as shorter clinical trials, extended exclusivity, tax breaks and high rates of regulatory success. They have made it commercially attractive for pharmaceutical companies to invest in the research and development (R&D) required to find a cure for these diseases.

But even if they are incentivized to develop drugs to treat rare diseases, pharmaceutical companies remain beholden to the laws of economics and, given the low demand for orphan drugs, price these drugs as high as they choose to. By way of example, Rituximab, an orphan oncology drug, is the world’s second highest revenue generating drug by lifetime revenue potential. While all this may be less of a concern to patients in Western countries, covered as they are by comprehensive healthcare plans, it forces patients in developing countries to deal with the uncomfortable realization that even though a cure exists for their condition, it is wholly unaffordable.

The case of Mohammed Ahmed received the full attention of the Delhi high court. Justice Manmohan analysed a number of cases that have confirmed that a right to health and access to healthcare is implicit in Articles 21, 38 and 46 of the Constitution.

He concluded that “every person has a fundamental right to quality health care — that is affordable, accessible and compassionate.” While recognizing that all citizens could not expect to receive free medical treatment at state expense, he refused to allow the government to wriggle out of its obligation to ensure access to health facilities on the ground that it could not afford to treat rare diseases.

The court made a number of suggestions to the government. It pointed to the corporate social responsibility (CSR) provisions under the Companies Act, 2013 and confirmed that the act of sponsoring the treatment of rare diseases would qualify as a CSR activity. It suggested that the government increase its investment in the health sector and recommended the development of best practices and guiding principles in relation to the treatment of rare diseases.

It concluded by directing the government of Delhi to provide Mohammed with enzyme replacement therapy at the All India Institute of Medical Sciences free-of-charge as and when he requires it, in accordance with his constitutional right.

Mohammed’s story has a happy ending but will, unfortunately, remain an aberration unless state governments act on the suggestions made by the court.

Late last year, Karnataka became the first state to release a Rare Diseases and Orphan Drugs Policy. It recommended the implementation of preventive and carrier testing as a means of reducing morbidity and mortality. Given that over 80% of rare diseases have a genetic basis, it suggested the use genetic testing to accelerate the identification of the critical genes involved in rare diseases.

It also recommended that education be used as a tool to combat delayed diagnosis and treatment and called for the enactment of an orphan drugs statute to allow for tax breaks, funding and exclusive marketing rights as incentives for orphan drug discovery.

It also highlighted a feature of India’s insurance laws that puts patients suffering from rare diseases at a particular disadvantage. Private insurance companies treat genetic disorders as pre-existing conditions and on that ground, exclude them from coverage. Since most rare diseases are genetic, patients are routinely denied insurance cover.

The Karnataka policy asks that the Insurance Regulatory and Development Authority re-consider this exclusion and affirmatively require that insurance companies provide basic coverage of rare diseases at reasonable premiums.

If other state governments see fit to follow Karnataka’s lead, we may finally be able to offer people like Mohammed Ahmed a longer and more dignified life.


This article was first published in The Mint under a column called Ex Machina on technology, law and everything in between.