This rare genetic disorder was just treated in the womb for the first time ever

Yahoo

21-02-2025

Following the first-ever treatment for spinal muscular atrophy in the womb, physicians say a 2-year-old girl shows no signs of the rare genetic disorder.
Spinal muscular atrophy is a genetic condition set in motion before birth that causes worsening muscle weakness. There are four types of the disorder, each with varying degrees of severity. However, for those with the most common and severe form, children typically do not live past age 2.
There is no cure, but treatment can help to manage symptoms and prevent complications.
The child's mother was given the drug risdiplam, which is the first oral medication approved to treat the progressive neurodegenerative disorder by the Food and Drug Administration. It is manufactured by Swiss biotech firm Roche.
'Our primary objectives were feasibility, safety and tolerability, so we're very pleased to see that the parent and child are doing well,' Dr. Richard Finkel, the director of the St. Jude Center for Experimental Neurotherapeutics, said in a statement. Scientists at St. Jude Children's Research Hospital led the first in utero treatment. 'The results suggest it would be worthwhile to continue investigating the use of prenatal intervention for SMA.'
Finkel was the corresponding author of the research which was published Wednesday in a letter to the New England Journal of Medicine.
Until now, treatments were given after birth.
'There was still room for improvement,' Finkel told Nature on Thursday.
This progress came about by understanding the cause of spinal muscular atrophy.
Approximately one in every 6,000 babies is born with the disorder. The research hospital noted in a release that it is caused by a lack of survival motor neuron protein. The protein is essential because it enables muscles to receive signals from the nerves, according to Johns Hopkins Medicine. The absence of the protein occurs in around one in every 11,000 births in the U.S. The drug works by helping produce more of the protein.
Because the protein is most needed in the third trimester of fetal development and the first three months of life after birth, St. Jude's says that symptom severity is closely linked with intervention time. So, they launched the clinical protocol to study risdiplam in a single patient. The Food and Drug Administration approved the study.
The parents of the patients had a prior infant born with Type 1 and were known carriers of genetic variants. Testing confirmed that their child would likely be born with Type 1. The idea of giving the drug in utero came from the parents, and doctors gave the mother the drug within the final six weeks of her pregnancy.
After her birth, the baby was diagnosed with several abnormalities that are considered to have occurred before exposure to the drug. She started taking it at a week old and will likely continue to take it for the rest of her life.
They are continuing to monitor her periodically at the research center.
'During the course of the assessment, we really have seen no indication of any signs of SMA,' Finkel said.