Newborn being treated for spinal muscular atrophy before symptoms set in

The Hindu

19-06-2025

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.