New treatments for rare diseases need quick approval

Earlier this year, I released an episode of my podcast that told the story of…

Earlier this year, I released an episode of my podcast that told the story of Karanveer Singh, a boy in Bangalore who was afflicted with a rare degenerative muscular disease. The episode describes the struggles of his family as they tried to find a way to mitigate the effects of a disease that had resulted in such severe muscular atrophy that Karan was already confined to a wheelchair. It was absolutely clear that if they did not do something about it fast, the disease would eventually claim his life.

Duchenne’s Muscular Dystrophy (DMD) is a genetic disease caused by a mutation in the DMD gene. This gene is responsible for the production of dystrophin—a protein that is present in the membrane that surrounds muscle fibres and protects them from wear and tear during normal expansion and contraction. Without dystrophin, muscles steadily degenerate in the course of regular daily movement, until they eventually wear out completely.

Children afflicted with Duchenne’s have a mutation in one or more of the exons in their DMD gene, as a result of which their body is incapable of producing the dystrophin it needs. By the age of four, these children usually show evidence of muscular weakness and progressively lose their ability to use their muscles till they eventually develop serious cardiac and respiratory problems that eventually lead to death.

There is no known cure for Duchenne’s. Those who have the disorder usually don’t live past their twenties without treatment.

What is remarkable about Karan’s story is that even though his parents were told that there was no cure, they refused to give up. They set up an organization called the Dystrophy Annihilation Research Trust (DART), and began to chase down all sorts of treatments to find a solution. Their perseverance paid off. They were able to track down an experimental therapy that worked by tricking the dystrophin production process into skipping the missing exon/s—so that instead of stopping cold at the DNA error, it overlooked the mutation and continued past it to start expressing dystrophin.

As much as this is a story about the remarkable grit of a family faced with impossible odds, it is also a description of the bureaucratic obstacles that lie in the path of anyone looking to deploy a hitherto unheard of life-saving therapy for rare diseases. In Karan’s case, thanks to a fortuitous intervention, the Indian Council for Medical Research funded a clinical study of the therapy which, once administered to Karan, showed remarkable results.

However, this was a one-off approval for research on a therapy which had yet to be approved at that time anywhere in the world for DMD patients with the particular mutation that Karan has. In order for this treatment to be available to the thousands of children in the country suffering from DMD, what was needed was a clinical trial that proved the efficacy of the drug. The podcast ends with Karan’s father railing against the bureaucracy that permeates the drug approval process, with him asking how many more children would need to die before we are allowed to give them a drug that could save their lives.

Late last month, the Central Licensing Authority under the Directorate General of Health Services permitted the conduct of a clinical trial of the therapy in multiple centres across the country. The approval was largely based on the overwhelming success of the clinical study of the therapy on Karan and the fact that it had absolutely no adverse effects. If successful, the clinical trial will offer hope to thousands of families around the country whose children have been diagnosed with this genetic condition, and who, without this therapy, have no option but to resign themselves to a slow yet inevitable fate.

But, while the successful conclusion of the clinical trial will permit the drug to be manufactured in India and administered to patients who need it, what is even more heartening is the cost at which DART’s therapy will be made available in the country.

DMD belongs to a category of rare diseases that affect such a small section of the population that it is simply not worth the while of big pharmaceutical companies, which have the resources to find a cure, to invest in research and development (R&D) for their treatment. Pharmaceutical companies recoup their investment in a new drug by amortizing its R&D costs over the entire population to which the therapeutic product is administered. This is why blockbuster drugs invariably tend to be those that are prescribed to such a large number of people that they offer manufacturers very high returns on investment.

On the other hand, if a disease afflicts only a small portion of the general population, private drug companies have little or no incentive to invest in the research and development of its treatment. Those drugs that do get manufactured to treat rare diseases are sold at such exorbitant prices that they end up out of the reach of patients who need them the most.

By way of example, if the same treatment for DMD that DART is seeking drug approval for were to be procured from the US or any other Western country, it would likely cost in the region of $300,000 per year for a 20kg child—and proportionately more if the child is heavier. In terms of Indian currency, that works out to nearly 2.5 crore per annum.

On the other hand, DART’s approved treatment will cost just 20 lakh a year.

Rahul Matthan is a partner at Trilegal and also has a podcast by the name Ex Machina. His Twitter handle is @matthan

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