Latest news with #Risdiplam
RTHK
11-07-2025
- Health
- RTHK
Spinal muscular atrophy drug subsidy 'set for adults'
Spinal muscular atrophy drug subsidy 'set for adults' Michael Tien, standing centre, hopes the new arrangement to widen the application of a subsidy to more spinal muscular atrophy patients can be implemented within months. Photo: RTHK More Hong Kong patients suffering from spinal muscular atrophy (SMA) will be able to enjoy a government subsidy to control the symptoms of their disorder with two drugs, Roundtable lawmaker Michael Tien said. Currently, only infants and children suffering from two types of SMA, a group of neuromuscular disorders, are entitled to government assistance to purchase the drugs – Nusinersen and Risdiplam. The health authorities, Tien said on Friday, have recently given the green light for adult patients suffering from two other types of the disorder to apply for the subsidy as well. Tien said he aims to push for the new arrangement to be implemented before his Legco term ends by the end of the year. He also urged the government to refer to mainland data in vetting drugs in the future. 'Hong Kong experts, when they decide whether to use public money to help patients with a particular disease, look at their own research…they look at worldwide papers,' Tien said. 'My argument is that those [patients] are not of the same race as us, our blood types are different, our DNAs are different. "Why can't the Hong Kong government look more at the mainland situation?' Tien also said the newly introduced 1+ mechanism that speeds up registration of new drugs in Hong Kong will also facilitate the SAR in price negotiations with global pharmaceutical companies.
The Hindu
19-06-2025
- Health
- The Hindu
Newborn being treated for spinal muscular atrophy before symptoms set in
In perhaps a first in the country, a newborn found carrying the SMN1 gene mutation for Spinal Muscular Atrophy (SMA) through prenatal genetic screening is being administered presymptomatic treatment for SMA at the SAT Hospital here, thus minimising the infant's potential for future neuron damage. The infant, who is hardly three weeks old, is being administered presymptomatic treatment using Risdiplam, one of the rare disease-modifying drugs currently available for SMA, so that the infant will get the benefit of early initiation of treatment. This is a rare and very crucial step forward for the State in the management of rare diseases. SMA refers to a group of hereditary diseases that affect motor neurons, which are the specialised nerve cells in the brain and spinal cord that control movement of the body as well as skeletal muscle activity. The disease is currently not curable, even though several treatments have been developed for SMA that preserve motor neurons and improve muscle function to extend lives. In SMA, treatment early in life tends to provide more benefits. However, early diagnosis is fraught with many challenges. Most cases of SMA occur when the affected gene is passed down from the individual's parents. In this case, the mother is an SMA patient and through pre-natal diagnostic tests, it had been detected that the foetus was carrying the gene mutation associated with SMA. Though termination of pregnancy was an option, the woman chose to have the baby. Used in the West 'We do not normally get to diagnose SMA early before symptoms set in. Here, because of prenatal screening, we got a chance for early intervention and we thought we will try presymptomatic treatment, a protocol that is now being used in the West with very positive results,' V.H. Shanker, who heads the Genetics Centre at SAT Hospital said. The therapeutic time-window to treat SMA is narrow and early treatment, before the symptoms set in, improves motor function and outcomes. Early initiation of treatment with Risdiplam minimises motor neuron damage and maximises the potential for motor development, according to medical literature. Expensive drug 'SMA has no cure and presymptomatic treatment offers no guarantee that the child will not later develop the disease. However, the timing of the treatment is crucial and we hope that the infant will get the benefit of early treatment and that neuron damage can be minimised or prevented,' Dr. Shanker said. Health Minister Veena George said this was a rare opportunity for the State to potentially save at least one child from the debilitating disease. The State government is already giving Risdiplam, which is prohibitively expensive, to some 100 SMA patients for free, under its KARE (Kerala Against Rare Diseases), the State's initiative to devise a comprehensive care strategy to prevent and manage rare diseases.
Time of India
18-06-2025
- Health
- Time of India
Advanced pre-symptomatic treatment for spinal muscular atrophy provided in Kerala, first in India
Thiruvananthapuram: For the first time in India, pre-symptomatic treatment to an infant, diagnosed with spinal muscular atrophy (SMA) within days of birth, was provided in Kerala, marking a significant step in rare disease treatment. Tired of too many ads? go ad free now The pre-symptomatic treatment, which was highly effective in the USA and Canada, was successfully conducted in the state. The second child of a woman from Thiruvananthapuram received the expensive drug Risdiplam for free. Health minister Veena George congratulated the entire team for delivering world-class advanced treatment, setting an example for the nation. The inability to identify genetic disorders and their risk factors early often poses a challenge for SMA treatment. However, with pre-symptomatic treatment, medication for SMA can be administered during pregnancy or within days of birth. This approach allows children to achieve 100% normal growth. The woman, also affected by SMA, sought govt assistance to save her unborn child after understanding the risk. George instructed the child health nodal officer to take necessary action. Treatment was then ensured at SAT Hospital, Thiruvananthapuram. A specialised committee assessed each stage of the pregnancy to determine treatment based on the severity of the condition. Genetic counselling and adherence to protocols from similar cases in developed countries were part of the treatment process. "When both parents carry the defective SMA gene, there is a 50% chance that each of their children could inherit the disease. Studies show that in India, there is a possibility of one child being diagnosed with this disease for every 7,000 births," said an official statement. Tired of too many ads? go ad free now To ensure comprehensive care for children with rare diseases, a special scheme was formulated in 2024, marking a first in India. Govt's policy "Diseases may be rare, but care should not be" led to the launch of CARE project. Through this initiative, over 100 children affected by rare diseases, including SMA, receive expensive medications and corrective surgeries for spinal curvature free of cost.
Indian Express
09-06-2025
- Health
- Indian Express
High costs of life-saving drugs leave patients of rare diseases in the lurch: Will their crusade for Indian variants win?
For Seba P A, 26, from Kerala, the cost of breathing easy, moving around and enduring fewer bouts of infection comes at a steep price — nearly Rs 18 lakh per month. For long, she had managed with the Rs 50 lakh government grant under the national policy of rare diseases, one of which — Spinal Muscular Atrophy — she is battling. Now she is on a crusade to make life-saving drugs, currently under patents, affordable for persons suffering from rare diseases. Suffering from Spinal Muscular Atrophy (SMA), a rare disease that progressively affects muscle functions, her condition can be managed with Risdiplam. Developed by Swiss pharma giant Roche, one bottle of Risdiplam costs around Rs 6 lakh in India — something her taxi driver father cannot afford. In a bid to make the life-altering medicine affordable for SMA patients like herself, Seba had in December 2023 filed a petition in the Kerala High Court urging the government to invoke the compulsory licensing clause under Section 84 of the Indian Patents Act, 1970. This allows the Indian government to grant someone other than the patent holder the right to make the medicine if a product or process is nationally unavailable or overpriced. Roche holds the patent for Risdiplam till May 2035. Her case is now being heard in the Supreme Court. 'If other companies start manufacturing the drug, the prices are likely to plummet,' says Seba. Like her, patients suffering from rare diseases, who need life-long therapy, have been urging the government to invoke the compulsory licensing clause. WHY PATIENTS OF RARE DISEASES RAN OUT OF OPTIONS Two years ago, Seba's family had applied for financial aid under the Centre's National Policy for Rare Diseases, 2021, which had identified 1,000 patients, including Seba, for a one-time financial assistance of Rs 50 lakh each. 'When I was taking Risdiplam, my health was stable. I was able to speak and sing. However, the funds got exhausted in mid-February. Since then, I have already had two bouts of infections and have been confined to bed,' Seba, who loves singing and painting, tells The Indian Express. Though she is back on Risdiplam, being provided by Roche free of cost for a year while the case is on, it continues to be out of reach to other SMA patients. The mother of a 14-year-old boy from Bengaluru has been struggling to obtain medicine to treat his cystic fibrosis (CF), a genetic condition that affects cells that produce mucus, sweat and digestive juices, making them thick and sticky, clogging up lungs and the digestive system. In 2019, Trikafta, a three-drug combination sold by US-based Vertex, was approved by the US Food and Drug Administration (FDA) for CF treatment. 'Importing a three-month supply costs Rs 70 lakh. An Argentina company manufactures a slightly cheaper version that costs around Rs 21 lakh for a three-month supply,' she says. She is one of the petitioners urging the government to grant a compulsory license for the medicine. In an attempt to get the medicine from Argentina, the mother scours Facebook for Indians living there and requests them to get the medicine when they come home. 'I split the tablets to make them last at least six months. If Indian companies are given compulsory licences, I might be able to afford medicines for my son,' she says. WHAT'S THE STATUS OF COMPULSORY LICENSING CLAUSE? Despite the exorbitant cost of drugs used to manage rare diseases, India's compulsory licensing clause has been used just once in 20 years. 'Only one private company got a compulsory license once,' says Anand Grover, a senior lawyer who works on such patent cases, referring to the New Delhi-based Natco Pharma, which secured the permit to manufacture Nexavar, a cancer drug made by German multinational Bayer, in 2012. Since then, three Indian companies have unsuccessfully applied for compulsory licences — BDR Pharmaceuticals for Dasatinib (for leukemia), Lee Pharma for Sitagliptin (for diabetes), and Emcure Pharmaceuticals for Trastuzumab (for breast cancer), says Sneha Sharma, a partner at Sujata Chaudhri IP Attorneys. ROCHE VS NATCO In 2024, Roche Pharmaceuticals had filed a petition to get an injunction, claiming that Natco Pharmaceutical was in the process of launching a generic version of Risdiplam. Though its injunction was denied by the Delhi High Court in March 2025, the Swiss drug-maker has filed an appeal. The Division Bench has heard the arguments in the case and is now awaiting written statements from both parties. Meanwhile, Natco announced that if it is allowed to manufacture and market the generic version of Risdiplam, it will sell it for just Rs 15,900 per bottle (against Roche's Rs 6 lakh per bottle). Though Roche's assistance programme provides five bottles at the cost of two, patients still end up spending nearly Rs 30 lakh annually. A generic version of Risdiplam would mean that the government's Rs 50-lakh aid will last almost nine years instead of just a few months for SMA patients. Risdiplam is sold for around $500 (around Rs 42,000) per bottle in China and Pakistan. 'Risdiplam costs less in China and Pakistan where prices were negotiated with the company. Since that did not happen in India, a simple solution would be to issue a compulsory license to Natco,' says Grover. He also challenged the narrative put forth by the Swiss drug-maker, which said that a drug's exorbitant prices were meant to cover the 'high costs' of research and development (R & D). In its suit against Natco, Roche had said that it takes a company nearly 10-15 years and an estimated $2.6 billion (nearly Rs 260 crore) to bring a successful drug to the market. The company had claimed that only one in nearly 5,000 or 10,000 drugs in the research pipeline and around 12% of those in clinical trials get approved. 'Many drugs are, in fact, developed by smaller companies that are acquired by bigger ones and taken to clinical trials. Big companies often hold these patents despite not bearing initial costs of developing several candidate drugs. The figures these companies have been giving out for years are an exaggeration. Which is why we ask for actual costs the companies incur on drug R & D,' says Grover. He says studies have shown that the cost of developing Risdiplam would, at most, be $150 million, a figure that has not yet been contested by the company. HOW PHARMA MAJORS PROLONG PATENT CONTROL Pharma giants find loopholes to prolong their control over a drug. When it comes to Trikafta, the CF drug, Vertex Pharmaceuticals already holds the patent for two of these medicines in India while an application for the third is in process. 'In a blatant abuse of its monopoly, Vertex has filed and obtained multiple patents in India, thus having monopoly rights on various CFTR modulators (a class of medications designed for individuals with CF). But it has not bothered to register the medicine in India,' states a 2024 petition by CF patients in the Karnataka High Court. Sharma says a compulsory licence may also be issued if a patent holder has not worked the patent in over three years. PATENTING PHARMACEUTICALS IN INDIA When the country's new patent law was brought out in the 1970s, the government created a very important provision — it allowed for only process patenting when it came to pharmaceuticals. 'After the British left, drugs in India were very costly. A committee set up by (then PM) Mrs (Indira) Gandhi recommended dropping product patenting for pharmaceuticals. If a product is patented, you cannot do anything. But if a process is patented, you can legally make a similar drug using another process. That is what was done under the new Patent Act that came into force in 1972,' says Grover. This decision was key to the generic manufacturing of pharmaceuticals in India, earning the country the moniker of the 'pharmacy of the world.' Meanwhile, the US, which wanted to create a monopoly for itself, forced the world to accept the Trade-Related Aspects of Intellectual Property Rights (TRIPS) Agreement, which came into effect on January 1, 1995. While countries like Brazil, Mexico and India initially formed a block against TRIPS, threats of sanctions forced them to toe the line. India was given time till 2005 to implement provisions similar to the ones in the US — ensuring product patents and extending patent period from seven to 20 years, explains Grover. In fact, India's Patent Act, which allowed only the process to be patented, became the reason why Indian drug-maker Cipla could establish itself as the 'Robin Hood' of pharmaceuticals. In 2001, the company started selling a cocktail of antiretrovirals (medicines used to manage HIV) for less than $1 a day, driving down the prices of the medication across the world. Grover says, '(Despite TRIPS), we still tried to maintain some provisions that would help our people. Our law does not allow extending patents simply by changing the medicine's form or replacing some salts (a process called ever-greening of patents) unless there is a significant change in its efficacy. Our law also allows for both pre and post-grant opposition.' Anonna Dutt is a Principal Correspondent who writes primarily on health at the Indian Express. She reports on myriad topics ranging from the growing burden of non-communicable diseases such as diabetes and hypertension to the problems with pervasive infectious conditions. She reported on the government's management of the Covid-19 pandemic and closely followed the vaccination programme. Her stories have resulted in the city government investing in high-end tests for the poor and acknowledging errors in their official reports. Dutt also takes a keen interest in the country's space programme and has written on key missions like Chandrayaan 2 and 3, Aditya L1, and Gaganyaan. She was among the first batch of eleven media fellows with RBM Partnership to End Malaria. She was also selected to participate in the short-term programme on early childhood reporting at Columbia University's Dart Centre. Dutt has a Bachelor's Degree from the Symbiosis Institute of Media and Communication, Pune and a PG Diploma from the Asian College of Journalism, Chennai. She started her reporting career with the Hindustan Times. When not at work, she tries to appease the Duolingo owl with her French skills and sometimes takes to the dance floor. ... Read More
Deccan Herald
30-05-2025
- Health
- Deccan Herald
Spinal Muscular Atrophy: Debilitating and costly
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. .Generic drugs can bring hope for SMA patients'.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.
