A groundbreaking case involves a two-and-a-half-year-old girl who shows no manifestations of spinal muscular atrophy after receiving gene-targeting treatment while in utero. The mother took the drug Risdiplam during late pregnancy, allowing the child to continue treatment post-birth. Spinal muscular atrophy, a severe genetic disorder affecting motor neurons, leads to progressive weakening and early mortality. This case provides hope for improving outcomes before birth, particularly as prior treatments commenced only after delivery, leaving many newborns symptomatic.
The child has been effectively treated, with no manifestations of the condition," says Michelle Farrar, a paediatric neurologist at UNSW Sydney in Australia.
Up until now, treatments for spinal muscular atrophy were given after birth. But up to half of newborns lacking both copies of the SMN1 gene... are born with symptoms.
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