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A Dh10.6-million gene therapy has helped treat a six-year-old boy who suffered from a rare and severe genetic disorder that causes muscle degeneration and weakness. The therapy is among the world's most expensive life-saving treatment, available in just a few countries including the UAE and approved by the US Food and Drug Administration (FDA) last year.
The Turkish boy, Cinar Atar, was diagnosed with Duchenne Muscular Dystrophy (DMD) during a routine health check-up in his home country when he was four years old.
“Cinar started having difficulty walking … and struggled to stand from a sitting position without support,” Dr Vivek Mundada, consultant paediatric neurologist at Medcare Women and Children Hospital, told Khaleej Times. “He also needed the help of a banister while climbing stairs. With these symptoms, his paediatrician did a test to check the level of his muscle enzyme called creatinine kinase. As the levels were too high, a genetic test for DMD was sent, which confirmed the diagnosis.”
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His grandfather said the family was “devastated” by Atar's diagnosis and came to Dubai after being advised by volunteers and charities.
“When I saw him, he was slightly weak in his legs, but the breathing and swallowing muscles were unaffected,” said Dr Mundada.
DMD is the most common form of muscular dystrophy and causes skeletal and cardiac muscle weakening. “It is caused by mutations in the dystrophin gene, which is required for muscle integrity. Muscle cells get injured and get weaker over time in the absence of dystrophin. The symptoms of this condition usually begin during early childhood, usually between the ages of two and three. It predominantly affects boys.”
Gene therapy has shown promise in over 400 patients worldwide. However, there are limited medical facilities around the world that offer this treatment.
With no treatment options available in Turkey, Atar's parents turned to physiotherapy and swimming to support his muscle development. These measures, though helpful, were insufficient to combat the progression of the condition.
The therapy is only administered once. “The treatment is designed to strengthen muscles by delivering a shortened version of the dystrophin gene, known as micro-dystrophin, which eventually produces smaller but functional dystrophin protein,” said Dr Mundada.
This functional gene is enclosed in a specific non-disease-causing virus and is administered into the bloodstream of the affected individual as a one-off infusion.
“We are hoping that this therapy will change the natural course of his disease. Without any such intervention, his condition would have gradually worsened and he would have become weaker with time. In older children in their teen years, even the muscles of the heart and muscles used for breathing can be affected due to progressive degeneration,” the doctor said.
During the post-infusion monitoring, the child came in for weekly blood tests, physiotherapy and rehabilitation.
There is “mild improvement” in his strength which is usually measured by certain functional scores. “Fortunately, there are no side effects from the therapy so far.”
To minimise the side effects, patients receive steroids which are usually started a day before the treatment and are continued for two to three months.
“He will still need to see different doctors and physiotherapists. In the initial phase, these visits are mainly to monitor any side effects. Once the steroids are stopped, the monitoring will involve screening his muscle functions and measuring his improvement through some tests and assessments,” the doctor added.
The hereditary defect that Atar was born with does not change through this therapy.
“This treatment is instead a method of delivering an element of a missing gene into his muscle cells. Without interacting with the patient's genes, this functional gene fragment only resides in the cell and allows the cell to build up to generate the protein known as microdystrophin. This helps to maintain the muscle's integrity, which keeps it from breaking or degenerating,” said Dr Mundada.
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