A five-month-old from Mumbai was recently administered the world's most expensive drug Zolgensma, which costs Rs 18 crore a dose, to treat a rare genetic disorder called Spinal Muscular Atrophy. The case also caught spotlight after patient Teera Kamat's parents launched a crowdfunding campaign and managed to collect Rs 16 crore for her treatment.

Later, the Indian government, on the request of her parents, waived off Rs 6 crore GST on the import of the drug from the US. "Teera was diagnosed with Type 1 SMA, a severe form of the disease in November 2020 and we immediately applied for the injection to the US," Dr Neelu Desai, paediatric neurologist from P D Hinduja Hospital, Mumbai, who operated on Teera told FactChecker.

"Until now I have seen around 60 SMA patients but Teera Kamat is the first child to receive Zolgensma under me," she added.

Zolgensma: What it is and why the cost

This drug, which was first approved on May 24, 2019 by the US Food and Drug Administration, was approved by the United Kingdom's National Health Services (NHS) on March 9, 2020. It is manufactured by US-based Swiss bio-pharmaceutical company Novartis Gene Therapies.

"This deal is a life changer for youngsters with this cruel disease and for their families," said NHS England chief executive Sir Simon Stevens.

"Spinal Muscular Atrophy is the leading genetic cause of death among babies and young children, which is why NHS England has moved mountains to make this treatment available, while successfully negotiating behind the scenes to ensure a price that is fair to taxpayers," he added.

Spinal Muscular Atrophy is a rare hereditary disease caused by one missing gene or the deficiency of a functional survival motor neuron 1 (SMN1) gene, according to Novartis. This results in rapid and irreversible loss of motor neurons, affecting main muscle functions like breathing, swallowing and basic movements.

Since these neurons control muscle movement throughout the body, a lack of it could cause paralysis, severe muscle weakness and loss of movement. The prevalence of SMA is about 1 in 10,000 children. 1 in 54 people carry the genetic defect of SMA and two carriers have a 25% chance of having a child with SMA.

Zolgensma is the second and most effective drug for the disorder. The reason for its exorbitant cost is its miniscule market size in the drug manufacturing industry and its potential to save lives.

"The disorder is rare and that is why we needed a highly specialized drug. The expertise required to make it and the research around it has taken very long. It's also a one-time dose; the fewer the cases the higher its price will be," said Desai. Discovering and manufacturing a new drug can costs billions of dollars.

"The Wholesale Acquisition Cost (WAC) of Zolgensma is $2.125 million – less than 50% of the current 10-year cost of the current standard in chronic SMA therapy in the US, and within the range of rare-disease cost-effectiveness thresholds used by the Institute of Cost Effectiveness Research. Over time, it is expected to save costs in the healthcare system for the treatment and care of patients with SMA, and we are partnering flexibly with payers to ensure access and affordability," international spokesperson of Novartis told FactChecker.

"Zolgensma is consistently priced worldwide under a value-based framework, however final pricing and reimbursement decisions are determined at the local level," the spokesperson added.

According to a 2016 study published in the Journal of Health Economics, it takes approximately $2.6 billion and more than 10 years to create a single new drug. Only 14% of drugs in clinical trials ultimately receive FDI approval since a significant amount of drug research does not succeed, a Massachusetts Institute of Technology (MIT) study showed.

Researchers from MIT and Dana-Farber Cancer Institute suggested financing costly drugs with the equivalent of mortgages to allow patients to pay in instalments, provided the drug worked.

How will Zolgensma treat SMA?

According to the NHS, the drug contains a replica of the missing gene. The active ingredient onasemnogene abeparvovec passes into the nerves and restores the gene, which then produces proteins necessary for nerve function and controlling muscle movement. The dose is determined based on the weight of the patient.

"This drug is a one-time intravenous infusion which is administered on a patient for over an hour and is used to treat children under two years of age," Desai said.

A common side effect in patients is rise in liver enzymes, according to Desai. As per the safety guidelines of Novartis, those with pre-existing liver conditions are particularly at risk of acute liver injury and tests should be conducted to assess liver function prior to the treatment with Zolgensma.

Alternative Drugs for SMA

Spinraza (nuninersen) was the first drug approved for children and adults with SMA by the US FDA in December 2016. Spinraza is an injection administered into the fluid surrounding the spinal cord.

In August 2020, FDA announced the release of a third drug called Evrysdi (risdiplam) to treat patients as young as two months. This is the first oral drug to treat the disease.