Child doing well after mother had SMA treatment while pregnant
The mother of a baby with spinal muscular atrophy (SMA) was given Evrysdi (risdiplam) for the last few weeks of her pregnancy, and the baby was started on the SMA treatment shortly after birth. The child, now 2.5, has not shown signs of SMA.
“During the course of the assessment, we really have seen no indication of any signs of SMA,” Richard Finkel, MD, co-author of the report and director of the Center for Experimental Neurotherapeutics at St. Jude Research Hospital, said in a hospital news story.
The case was described in The New England Journal of Medicine in a report titled, “Risdiplam for Prenatal Therapy of Spinal Muscular Atrophy.”
SMA is a genetic disorder chiefly caused by mutations in the gene that provides instructions to make a protein called SMN. Lack of this protein leads motor neurons, the nerve cells that control movement, to sicken and die, ultimately leading to symptoms like muscle weakness and wasting.
Evrysdi is an oral therapy that works to boost levels of the SMN protein. It’s approved in the U.S. to treat SMA in patients of all ages and with all types of the disease. Preclinical data have suggested that the active ingredient in Evrysdi can cross the placenta — meaning that if the drug is given to a pregnant person, the developing fetus will also be exposed to the medication.
Genetic testing suggests SMA
The family in the report had previously had a baby with SMA who died at 16 months. Since the parents were aware that they were carriers of the disease (each had one healthy copy and one faulty copy of the SMN1 gene), genetic testing was done during pregnancy to see if this baby also had SMA. Results suggested that the fetus had no copies of the SMN gene, which, associated with the family history and other information, strongly predicted the infant would be born with SMA type 1, one of the most severe forms of the disease and which without treatment is usually fatal in early childhood.
SMA treatments like Evrysdi are able to slow SMA progression, but they generally cannot reverse damage that’s already happened. Because of this, patients tend to experience the best results when treatment is started as early as possible. In this case, the family, working in consultation with their care providers, decided to try having the mother start taking Evrysdi during pregnancy, essentially allowing the baby to start treatment before birth.
Roche, the company that markets Evrysdi, provided the therapy to the family free of charge for this experimental procedure.
The mother started taking Evrysdi when she was 32 weeks pregnant. She took the therapy at a dose of 5 mg per day, which is the dosage approved for SMA patients ages 2 and older.
The baby was born about six weeks after the mother started on Evrysdi. Within eight days of birth, the infant started taking Evrysdi, and has continued on the therapy.
“Results in this single case cannot be generalized but may support the consideration of prenatal [Evrysdi] treatment for SMA identified in utero,” the researchers wrote.
The child has had some health problems, including a heart murmur, vision issues, and developmental delay. Clinicians said these issues probably arose due to problems early in fetal development, before the mother started taking Evrysdi, though the exact cause isn’t clear. But the baby has so far not experienced any of the symptoms that typically affect people with SMA.
“Our primary objectives were feasibility, safety and tolerability, so we’re very pleased to see that the parent and child are doing well,” Finkel said. “The results suggest it would be worthwhile to continue investigating the use of prenatal intervention for SMA.”
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