Lysosomal Storage Disorder Support Society (LSDSS) is bogged down by the challenge of exorbitant drug costs and absence of orphan drug status in India for Enzyme Replacement Therapy (ERT) which is the only medication to stall the progression of the deadly rare genetic disorders.

In addition, the Society manned by parents and relatives of LSD have no access to a dedicated facility in government hospitals to treat rare genetic diseases. There is also the issue of poor awareness not just among public but general physicians to enable early detection.

LSD is a group of over 45 rare genetic disorders covering Gaucher disease, MPS I, MPS II, Pompe disease, Fabry disease and MPS VI occurring due to the deficiency of specific enzymes in special compartments or lysosomes of cells. Every one out of 20 people are known to report LSD. Karnataka has around 50 known patients suffering from this condition according to LSDSS.

ERT administered intravenously is currently the standard of care to lead a normal life. ERT is manufactured only by a handful of companies globally. These are US-based Genzyme, a Sanofi subsidiary having a marketing office in India, Shire and BioMarin who are yet to have a presence here. There is no technology transfer made as yet to Indian bio-pharma companies. Genzyme’s ERT is under patent making it an expensive drug and beyond the means of middle-lower income families here, Prasanna Shirol, Founder Member, Organization for Rare Disease India (ORDI) told Pharmabiz.

The disease which is known to affect infants and children would annually cost Rs.40,000 to treat a patient weighing 10 kg. A patient weighing 31 kg needs Rs.1.3 crore. “This is expensive because it is only the drug cost and there are additional hospitalization expenses too,” said Shirol, adding that in some families there were over three members suffering from this disorder.

Rare diseases stalls function of brain, heart, spleen, neuromuscular systems and bone developments. At times, surgeries are performed to correct the condition to give the patient some relief and these interventions are also expensive, he said.

Orphan drug status for treating rare diseases is vogue not just in the US and Europe but highly prevalent in the developing world as governments of Brazil, Taiwan, China and Singapore provide financial incentives to persuade drug development and gives the patient access to affordable treatment. However, these practices are nonexistent in India. It’s high time India’s biotech companies look at manufacturing LSD drugs, he pointed out.

Although the Society has been frequently approaching the Union and state governments, assistance is yet to come through. While the Union government is looking to provide supportive care rather than insist on drug technology transfer into Indian biopharma to reduce cost ERT , Karnataka government announced Rs.10 crore early this year to set up an LSD unit at its Indian Gandhi Institute of Child Health but is yet to disburse the funds.

India also needs extensive genetic test labs across its government hospitals and massive awareness for early detection among its general practitioners who are the first point of contact when symptoms manifest, said Shirol.