Spinal Muscular Atrophy: Debilitating and costly

The Delhi High Court’s March 2025 order allowing Hyderabad-based Natco Pharma to develop a generic version of Risdiplam and rejecting the plea of patent holder Swiss pharma major F Hoffmann-La Roche Limited for an injunction has brought hope for over two lakh SMA patients in India

Fifteen years ago, Rashmi Sampath noticed that her seven-month-old daughter Deeksha couldn’t independently sit and stand.

After multiple specialist visits, tests and treatment options explored over one and a half years, Deeksha was diagnosed with Spinal Muscular Atrophy (SMA), a progressive neurodegenerative disease leading to gradual muscle wasting. “We did a DNA test, and that is how we learnt about SMA. Had we known to recognise signs earlier, maybe the treatment could have been started earlier,” said Rashmi.

In 2021, Deeksha, on a wheelchair since she was eight years old, started taking Risdiplam, an orally administered drug for SMA, which costs about Rs 6.2 lakh per bottle. Had her medication costs not been covered under a compassionate access program by Roche Pharma, it would have been difficult for her family to afford her treatment.

Keerthana, another child with SMA, also had treatment delays, impacting her progress. Her parents, H Nagashree and Kishore, both government employees, have to spend Rs 50-75 lakh annually for the treatment of the two-year-old. “We are getting three bottles free for the cost of two, but it is still quite expensive for us. She needs 4.4 mg of the oral solution every day. We need two bottles of 60 mg a month, since one bottle lasts about 18 days. We buy two at once and pay about Rs 12.4 lakh and get three more free with them”, said Kishore.

“After a year, only two bottles will be given for free. These costs will increase when Keerthana’s weight increases and the dosage will go up,” said Nagashree, who lamented that they had not yet received any government support so far.

The Delhi High Court’s March 2025 order allowing Hyderabad-based Natco Pharma to develop a generic version of Risdiplam and rejecting the plea of patent holder Swiss pharma major F Hoffmann-La Roche Limited for an injunction has brought hope for over two lakh SMA patients. Roche has now appealed to the Supreme Court. If Natco is successful, it can offer Risdiplam for an estimated cost of Rs 15,900 per 60 mg bottle

However, doctors, families of patients and activists argued that this might not be enough. They urged the government to step in and talk with the manufacturer and bulk buy the medicine to reduce the annual costs of the families of SMA patients.

“If a family has a strong background of SMA cases, we suggest parents undergo genetic testing and counselling to rule out the possibility of SMA. Even if nobody in the family has disease manifestations at all, but we suspect SMA in the baby, we do nerve conduction studies and electroneuromyography (ENMG) tests,” Dr Shiva Kumar HR, a consultant neurologist in Bengaluru, said.

Dr Kumar noted that deaths occur due to complications arising out of the disorder, not the disorder itself. “Over time, it weakens respiratory muscles, causing patients to die due to Type II respiratory failure. Life expectancy can be prolonged with gene therapy, but it cannot be called a cure because once a degeneration has begun, it cannot be reversed,” he said.

Prasanna Kumar Shirol, founder of the Organisation for Rare Diseases India (ORDI), said that although the government had the National Policy for Rare Diseases, 2021, its assistance was limited to the one-time payment of Rs 50 lakh per patient.

“Sustainable funding is the only way out. With an ICMR-rated 90% treatment effectiveness for SMA, government support, regardless of the cost, is essential,” he said, adding that not only the Centre but the state governments too needed to step in.

“The governments can develop a standard operating procedure for every rare condition like the SMA, identifying what is the inclusion and exclusion criteria for treatment, the criteria for extending treatment. They can then get into talks with the pharma companies, figure out drug supply for a fixed period and monitor drug effectiveness with timely reviews,” suggested Shirol.