Rare Genetic disorder, Spinal Muscular Atrophy cured in womb, says a new study
In a first, the rare genetic disorder, Spinal Muscular Atrophy (or survival motor neuron) which often turns fatal, has been cured in the pre-natal stage (in the womb).
A study conducted at St Jude Children’s Research Hospital in Memphis, Tennessee in the US has made the claim and it says that the child is now perfectly fine.
Now the two-and-a-half-year-old girl shows no signs of the rare genetic disorder after receiving treatment for motor neuron in the womb.
This is the first of its kind case in the world wherein a mother was administered gene therapy treatment, Risdiplam (a small-molecule drug) after the fetus was detected with motor neuron condition.
The drug modulates the splicing of the gene SMN2 (survival motor neuron) and it increases the level of the protein SMN1 in persons with spinal muscular atrophy (SMA) while ameliorating disease manifestations.
The SMN1 and SMN2 proteins are required for maintaining motor neurons in the spinal cord and brainstem.
This protein is also most important in the second and third trimesters of pregnancy and the first few months of life. The lack of this protein causes mortality in babies.
Research shows that around one in every 10,000 births has some form of the condition, making it the leading genetic cause of death in infants and children.
The mother was given the drug orally (5 mg per day) between 32 weeks 5 days gestation and delivery at 38 weeks 6 days gestation.
The mother was monitored weekly for obstetric health and drug-related side effects. The fetus was monitored for growth, activity, and anatomical development by using ultrasonography.
Risdiplam was subsequently administered orally to the infant 8 days after birth and has been continued daily to the present time (30 months of age in February 2025).
The research was conducted by Richard S Finkel, and Samuel H Hughes of St Jude Hospital in association with other researchers. The study has been published in the New England Journal of Medicine.
