In the silence of a Sydney laboratory, a couple of parents and a scientific team have answered a question that will change the history of medicine: "What if you could cure a person before they were even born?" That question, born from the pain of a previous loss caused by thespinal muscular atrophy (SMA), a devastating one genetic disease which affects motor neurons causing progressive muscle paralysis, has given rise to an incredible fetal therapy.
Today, two and a half years later, their little girl runs, plays and laughs like any other child her age, completely free from the symptoms of what should have been a sentence. It is the first time in history that a genetic disease has been treated and defeated while the patient is still in the mother's womb.
The challenge of illness and parental hope
The story of this little girl is rooted in pain. Her parents, as mentioned, had already lost a child due to SMA, a condition which affects approximately one in 10.000 births. When they faced a new pregnancy, they desperately searched for an alternative. Their determination pushed doctors to consider an approach never attempted before: intervene during pregnancy, when damage to motor neurons had not yet manifested itself.
The doctor Michelle Farrar, pediatric neurologist at theUniversity of New South Wales of Sydney, led this pioneering intervention. “The patient shows no signs of the disease,” he confirmed in a study published in New England Journal of Medicine (I link it here). An extraordinary, moving victory that opens new frontiers in prenatal medicine.
The mechanism of fetal therapy
The heart of this fetal therapy lies in a drug called Risdiplam, developed by the biotechnology company Roche. It is a molecule that acts on the gene SMN2, stimulating it to produce more SMN protein, essential for the survival of motor neurons. The lack of this protein, caused by the absence of the SMN1 gene, is the basis of SMA.
In the most severe cases, like this little girl's, individuals lack both copies of the SMN1 gene and have only one or two copies of the nearby gene, SMN2, which partially compensates for this deficiency.
Mother She took the drug daily for six weeks, starting in the 32nd week of pregnancy. The baby girl then continued the treatment from the first week of life.
The results and future implications
The success of this fetal therapy can truly be a game changer. Richard Finkel, clinical neuroscientist at the St. Jude Children's Research Hospital of Memphis, who led the study, emphasizes that until now, treatments for SMA were administered only after birth, when the damage was often already present.
The fact that the baby is now growing up healthy and without symptoms demonstrates the importance of early intervention. The SMN protein is particularly crucial during the second and third trimesters of pregnancy and in the first months of life. Intervening in this time window could mean the difference between life and death.
Fetal Therapy: A New Era for Prenatal Medicine
Fetal therapy opens up previously unthinkable scenarios, and the boundary between “incurable” and “curable” has once again become a question of perspective and courage in exploring new avenues. The American FDA has approved the study for this single case, but the results could pave the way for larger trials.
The success of this treatment could inspire similar approaches for other genetic diseases, offering hope to thousands of families. Prenatal medicine is entering a new era, where the womb is no longer just a place of waiting, but can become the first place of care.
