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.
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The Hindu
2 days ago
- 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
3 days ago
- 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.
Time of India
3 days ago
- Time of India
16cr gene therapy starts on 16-month-old girl
Kolkata: A 16-month-old girl received a second chance at life on Wednesday when doctors at Peerless Hospital administered doses of the world's most expensive gene therapy medicine, which travelled approximately 13,000 km from California. Tired of too many ads? go ad free now Ashmika Das from Ranaghat became the first child in eastern India to receive the Rs 16-crore medicine for Spinal Muscular Atrophy (SMA) Type 1 through crowdfunding. Parents Subhankar and Laksmi Das are hopeful that their only child will lead a quality life. The child was diagnosed with SMA Type 1, a rare and often fatal genetic disorder, when she was only six months old. It is a progressive condition that weakens the muscles and causes respiratory failure. "We travelled as far as Vellore and Bangalore to try our luck for a cure, only to come back to Kolkata. Our world collapsed, but we did not give up. The support we received from strangers, communities, and people we've never met restored our faith. Our daughter got a second chance because people cared," said the father, who works as a web designer. The drug, called Zolgensma, is a one-time gene therapy that costs over Rs 16 crore. The drug manufacturer also helped with their Early Access Programme to make the drug available when Rs 9 crore was raised through crowdfunding, on compassionate grounds. Paediatrician Sanjukta De and her team, including Subhransu Sekhar Sarkar, who are working on children with rare diseases, heaved a sigh of relief after the child was administered the gene therapy. The team is assisting a few more cases of SMA 1, like Hridika Das, a toddler, in documentation for crowdfunding and coordinating with the manufacturers so that these children receive the therapy as and when funds are ready. Tired of too many ads? go ad free now "If this gene therapy is given within two years of age, children with this rare disease can lead a quality life. Otherwise, they do not live long and mostly die of choking, respiratory failure, and pneumonia. We already lost a few children while waiting for funds," said De. De and her team currently have four children waiting for funds for the gene therapy. "Caring for children with this rare disease requires compassion and perseverance. Kudos to the paediatrics team who are not giving up despite the challenges. The management will support this effort," said Ravindra Pai, managing director of Peerless Hospital, Kolkata.
