CAIRO: Egyptian doctors have succeeded in treating a child with Spinal Muscular Atrophy (SMA) using the most expensive drug in the world, Zolgensma.
Nagia Ali Fahmy, professor of neurology and director of the Muscular and Neurology Unit at Ain Shams Medicine in Egypt, explained that Zolgensma, which has a value of $2.125 million per dose, is the first gene therapy of its kind in the world given to a patient intravenously in a single dose.
The drug was approved in May 2019 by the US Food and Drug Administration.
She added that the manufacturer, Novartis, offers 100 opportunities to obtain the drug free of charge in countries where it has not yet been registered, setting conditions for choosing the children who receive it, including that they should not be over two years old, and their mutation should be in the first gene. Accordingly, Ain Shams Medicine made eight applications for cases under their care, and Novartis selected one, a boy named Rayan from Alexandria, who is turning two in a few days.
SMA of the first and second types leads to the death of the child during the first two years of life as a result of the failure of respiratory functions.
Zolgensma was first clinically tested several years ago, and the first child to receive it is now five years old.
The drug treats breathing functions and motor impairment, and puts the child on a path to normal growth.
But the improvement happens gradually, during which physiotherapy and pulmonary rehabilitation therapy are performed.
Hani Aref, head of the neurology department at the Faculty of Medicine at Ain Shams University, said that SMA happens due to a genetic defect, as there is a defective gene in the body that does not allow the secretion of proteins responsible for feeding the cells connected to the muscles.
“This disease results in gradual, severe muscle weakness and it is divided into three stages depending on the severity in the gene,” he said.
“The first stage affects children immediately after birth in which the child’s condition is very difficult and the atrophy affects the breathing muscles gradually, which leads to death.
“The second stage affects children six months after their birth, and the third stage affects the child at an advanced age and results in severe muscle weakness,” he added.
“Symptoms begin with great difficulty moving, and the child cannot acquire motor skills; if he gains some of them, he will gradually lose them. Most of the children suffering from the disease are put on ventilators, but they eventually die.”