Spinal Muscular Atrophy: Indians who need $2.1m drug to fight a rare disease

authored by Cherylann Mollan

Mumbai-based BBC News

To keep their kids intact, the Gufrans are paying a high price.

Spinal Muscular Atrophy( SMA ), a rare genetic disorder that impairs breathing and causes muscle deterioration, affects Affan, seven, and Erhan, five. The family’s monthly physiotherapy appointments alone cost them 40, 000 rupees($ 480,$ 395 ), and their sons require ongoing care because they are unable to stand, sit, or walk on their own.

” We want to try gene therapy for our sons, but one dose alone costs about 175m rupees($ 2.1m,£ 1.7m )” Zeba Gufran, their family, says,” We simply can’t afford it.

One of the priciest medications in the world is Zolgensma protein remedy, which the Gufrans want to try. It is typically administered as a one-time injection to young children under two, but the Gufrans are in desperate need and believe in miracles.

Some families in India, like them, are unable to purchase Zolgensma and another SMA medications. Although there are no official statistics on the number of Indians who have the illness, the literature that is currently available indicates that it affects roughly 1 in 10, 000 live-born infants. In one study, one in 38 Native Americans are carriers of the damaged gene that causes SMA, compared to 1 out of 50 people in the West.

In some nations, the cost of rare disease therapies is covered by the government or health insurance, despite the fact that they are expensive everyday. Australia provides available people with subsidised access to pricey life-saving medications, while the UK has made SMA medications accessible through the National Health Service.

People frequently use fundraising to get access to these remedies in India. However, as interest in unusual hereditary diseases rises, patients and their families are banding together to demand that the federal government lower the price of these medications.

Recent medical advancements have made treatments for genetic conditions like SMA and Duchenne Muscular Dystrophy ( DMD ), which causes muscle weakness and degeneration, available, despite the fact that about 95 % of rare diseases have no approved treatments. Indians who are battling these illnesses therefore claim they want to get the applicable medications.

Over 100 families whose children have DMD organized a rally in Delhi’s investment in March to urge the government to introduce new treatments and to give all children with the illness free medicines and physiotherapy.

Specialists claim that India’s rare diseases plan, which aims to offer financial assistance, has not yet been properly implemented.

Due to some recent effective fundraising campaigns, SMA is one of the lesser-known rare diseases in India. The condition is brought on by an SMN1 protein fault that results in a protein deficit that is essential for motor neurons to function. A woman’s ability to walk, talk, eat, and breath is affected as SMA worsens over time.

There are four main types of SMA, according to Dr. Sheffali Gulati, a baby neurologist at the All India Institute of Medical Sciences in Delhi:

The onset of Type 2 occurs between the ages of three and fifteen weeks. These kids may remain, but they are unable to stand or walk on their own.
Types 3 and 4 are less severe, but in these conditions, the child’s lifespan will be cut short by an excessively slow strength deterioration.

Although SMA cannot be cured, there are solutions that can slow or halt the disease’s progression, extending a person ‘ life and enhancing its value, according to Dr. Gulati.

Three medications have so far received FDA approval:

For the first four concentrations of Spinraza, the price is around 50m pounds; after that, it costs about 30m Rs per year. It needs to be taken continuously.
The cheapest of the lot, Risdiplam, costs about 7.2 million rupees for a week’s source. It is offered for purchase below after receiving Indian approval. This also needs to be done over a lifetime.

There are no less expensive generic choices because none of these medications are produced in India and they are all patentable.

Some authorities have criticized pharmaceutical companies for charging exorbitant prices for medications used to treat rare disorders. Some, however, contend that it aids producers in recovering the billion invested in research and development and funding ongoing research.

The majority of clients in India obtain SMA medications through charitable programs provided by the pharmaceutical producers. These programs only provide free medications to a select group of patients, but kids claim that this doesn’t always maintain an endless supply.

Additionally, a person may be unsuitable for these programs due to factors like age or health problems. Zolgensma is produced by Novartis, which distributes it to kids under two through a drawing program.

Advocacy groups say there’s scope to make Risdiplam cheaper in India. “We have been asking the government to strike a deal with the manufacturer,” says Sharma, Alpana, co-founder of CureSMA India, a parent-led advocacy group.

The foundation has also requested the removal of the drug’s goods and services tax, which is 12 %, and has made these calls to the national health ministry, the finance ministry and best state physicians.

Emails sent to the national health and funding ministries have not yet been responded to by the BBC.

The Delhi High Court has even received a petition from CureSMA India. The National Rare Diseases Committee, an expert panel established by the court to carry out India’s rare diseases plan, was instructed to speak with manufacturers in July to determine whether SMA medications may be purchased at lower costs.

After lots of people fought and prevailed in court cases, the authorities announced in December that it would cover the cost of Zolgensma for infants with the most severe instances of SMA. According to the New York Times, Novartis and the Brazilian authorities have entered into a secret agreement whereby the latter will pay for the medication in installments.

However, the content also notes that the legislation has put undue strain on a public health system that is already in trouble and used up an excessive amount of resources.

People plan experts like Dr. Chandrakant Lahariya claim that India might encounter comparable difficulties. ” Governments must always prioritize the interests of many people over those of a select some.” It’s a morally and financially challenging choice to make, he claims.

According to Ms. Sharma, some individuals and parents might be able to raise money to pay for SMA care, but not right now.

However, people’s lives are being put on hold due to a lack of access to these life-saving medications.

At the age of two, SMA sort 3 was discovered in 35-year-old associate professor of biology Abhinand. At the age of 12, he stopped walking, and over time, his biceps have deteriorated. He uses a wheelchair and has intense spine, which impairs his ability to breathe.

After years of struggle, the recent availability of new procedures has given him some promise. Through fundraising, he was able to raise enough money in 2021 to purchase 30 bottles of Risdiplam for an entire year, and a family agreed to pay for his treatment the following year. Abhinand is unable to participate in sympathetic programs due to his health conditions, so when his medications run out, he is uncertain of what to do.

He claims that for the past seven years, he has been in a partnership with an incredible woman.

However, I don’t have the courage to propose to her until I am certain that I will be able to obtain enough medicine to succeed. I simply cannot harm her in that way.

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