The rare disease Duchenne muscular dystrophy (DMD) is manageable through medication, though current treatments are far beyond the budgets of many in India. This may be about to change due to one Indian research team.
An estimated one in twenty Indians suffer from illnesses that full under the classification of “rare diseases”. Fifty percent of these cases afflict children. Despite this, the illnesses remain neglected, both in terms of funding for research and public awareness. Rare diseases such as DMD — despite the infrequency that the name infers — cumulatively affect around 350 million people worldwide. This figure includes roughly seventy million Indians.
It is estimated that around 0.8 million male children in India are affected by DMD, which occurs due to a deficiency in the manufacture of a protein called dystrophin. This is a component of skeletal muscles used during movement, as well as in other organs such as the lungs, heart and in the brain’s nerve cells. This has a degenerative effect on muscle capacity, eventually leading to disability. The disorder can also affect the capacity to breathe and limit blood circulation, making it potentially fatal.
The currently available therapy for DMD is called antisense oligonucleotide (AON), developed by US and European pharmaceutical companies. This therapy is, however, extremely costly in India, marketing between Rs 3 and Rs 4 crore per year for each child treated using this medication. The drug is also not covered under any existing medical schemes in India and so the expense is borne out-of-pocket by those seeking to avail it, leaving it out of reach for most. This situation is not uncommon for rare diseases, if treatment options exist at all.
Indian scientist Surajit Sinha has developed a means to make the treatment more affordable in India. He has created a means by which to create the originator chemicals of the medication using indigenous technology, as well as lowering the effective dose range to avoid the toxicity expected at the dosages used by the US and European medications.
Sinha’s initial assessments demonstrate that the costs of the domestically produced DMD medication could be far lower, at around Rs 15 lakh per year. These costs, he says, could be reduced further as the medication is produced in bulk.
While seemingly a hope for the far-flung future, Sinha’s medication has already been approved by the Drug Controller General of India. The research — which focuses on the effects of defective genes — has also presented the opportunity for similar approaches to be used in other rare diseases.