Latest news with #Risdiplam
Deccan Herald
4 days ago
- 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.
Yahoo
27-02-2025
- Health
- Yahoo
Fetus Receives Life-Saving Medication Inside Womb in Medical First
Doctors in the US have treated a fetus with a rapidly progressive congenital disease from inside the womb for the very first time. Instead of giving medicine to a child with severe neuromuscular complications after they are born, a new case study details how a prospective mother agreed to take the medicine for her developing fetus while she was still pregnant. A prenatal test had shown that her fetus held two genetic mutations indicating type 1 spinal muscular atrophy (SMA), which usually results in severe muscle weakness and breathing difficulties within six months of birth. Historically, most children with type 1 SMA die by their second birthday, usually from respiratory failure. However, the child in this study has so far made it to the age of two and a half years with no sign of symptoms. The parents of the treated child had previously experienced the loss of their baby to spinal muscular atrophy, and when testing showed their most recent fetus also had the progressive neuromuscular disease, they wanted to know if they could start treatments earlier. For this single case, the FDA approved the early administration of the oral drug risdiplam, brand name Evrysdi, owned by the pharmaceutical company F. Hoffmann-La Roche AG. Over the years, randomized controlled trials have shown risdiplam to be both safe and effective at treating spinal muscular atrophy in newborns, and the younger the kids are when they start receiving the medicine, the better the outcomes overall. In the new study, the pregnant mother took a dose of risdiplam each day for six weeks before giving birth. Testing found that the medicine trickled right through her umbilical cord blood and the amniotic fluid bathing her fetus. After birth, it was the infant that was given the daily oral drug, not the mother. Pediatric neurologist Michelle Farrar, who is working on a minimally invasive gene therapy treatment for SMA in Australia, told Smriti Mallapaty at Nature that the baby girl with SMA "has been effectively treated, with no manifestations of the condition" even 30 months after birth. In 2020, risdiplam was first approved by the US Food and Drug Administration (FDA) for kids with spinal muscular atrophy, but only over the age of two months. Recent clinical trials funded by Roche, however, found the majority of children with spinal muscular atrophy treated with risdiplam before six weeks of age could swallow, feed, sit, stand, and walk on their own after two years of treatment. None required permanent ventilation. Risdiplam works to prevent the degeneration of nerve cells in the brain and body by increasing the concentration of a crucial protein, called survival motor neuron (SMN) protein. Active SMN proteins are lacking in those with genetic mutations that cause spinal muscular atrophy. "In children with SMA, motor neuron degeneration starts before the onset of symptoms, so time is of the essence if we hope to preserve muscle function," said pediatric neurologist Laurent Servais in a press release for a Roche clinical trial in 2024. "It's heartening to see that through early intervention with Evrysdi these children have achieved important milestones like sitting, standing, and walking that would typically be unattainable without treatment." Whether or not the recent case study in the US will inspire and embolden doctors and parents to trial risdiplam at earlier stages of development remains to be seen. "Results in this single case cannot be generalized but may support the consideration of prenatal risdiplam treatment for SMA identified in utero," write the authors of the correspondence. The study was published in The New England Journal of Medicine. There's a Critical Thing We Can All Do to Keep Alzheimer's Symptoms at Bay Traces of a Nutrient in Brazil Nuts Could Fight Cancer, But Dosage Is Crucial Tardigrade Protein Could Soon Make Cancer Patients More Radiation Proof
