Good news!
"A two-and-a-half-year-old girl shows no signs of a rare genetic disorder after becoming the first person to be treated for the motor-neuron condition while in the womb.
The child’s mother took the gene-targeting drug late in her pregnancy, and the child continues to take it. The drug, risdiplam, modifies the expression of a gene called SMN2 to produce more of a protein required for maintaining motor neurons in the spinal cord and brainstem."
"... "The “baby has been effectively treated, with no manifestations of the condition”, ...
The child was conceived with a genetic condition known as spinal muscular atrophy, which affects motor neurons that control movement, and leads to progressive muscle weakening. About one in every 10,000 births have some form of the condition — making it a leading genetic cause of death in infants and children. ...
In the past decade, the US Food and Drug Administration (FDA) has approved three drugs to treat newborns for spinal muscular atrophy. The oral drug used in this study, called risdiplam, manufactured by biotech firm Roche, based in Basel, Switzerland, is a small molecule that works by modifying expression of the SMN2 gene so that it produces more SMN protein.
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, and with only two copies of the SMN2 gene, are born with some symptoms. "
From the (extremely shor) abstract:
"The alternate splicing small molecule risdiplam, administered to a fetus with spinal muscular atrophy, had an apparent ameliorating effect on the disorder through 30 months."
Rare genetic disorder treated in womb for the first time "The child, who is now almost three years old, shows no signs of the often fatal motor neuron disease."
Risdiplam for Prenatal Therapy of Spinal Muscular Atrophy (no public access)
Babies with severe spinal muscular atrophy lack sufficient proteins to maintain motor neurons.
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