Dubai: In what is being hailed as a pioneering gene therapy carried out for the first time in UAE, one-year-old Emirati twins, Hamdan and Abdel Aziz Al Hassani, diagnosed with congenital Spinal Muscular Dystrophy (SMA), have undergone successful gene therapy at Burjeel Hospital, Abu Dhabi, allowing them to lead a normal life. The babies were discharged from hospital on August 16.
Without the gene therapy, the prognosis for SMA is fatal, with most infants not surviving beyond two years of age.
The joy of parents Rashid Al Hassani and Mona Ali knew no bounds when they not only found their babies were able to breathe and feed on their own, but also utter their first words — calling out to them as “Baba” and “Mama”. The hint of normality being restored with their children made the parents ecstatic, who had known about the SMA diagnosis six months after the birth of the babies.
What is Spinal Muscular Atrophy?
SMA is a Genetic disease caused by balletic deletions or mutations in the SMN1 gene on chromosome 5q13.2, resulting in deficiency of the SMN1 protein — the protein in Survival Motor Neuron (SMN) 1.
The symptoms of SMA start within two months after a child’s birth. The typical symptoms are progressive muscle weakness. A child can never achieve the ability to sit unsupported. A patient with SMA usually has an alert expression, normal eye movements, a weak cry, poor suck and swallow, pooling of secretions, an increased risk of aspiration and failure to thrive, with respiratory muscle weakness leading to progressive respiratory failure.
According to Dr Hussein Nasseer Matlik, paediatric neurologist and head of the department at Burjeel Hospital, Abu Dhabi, who treated the twins successfully, molecular genetic testing with targeted mutation analysis can confirm the diagnosis of SMA.
Why is SMA fatal?
Research indicates that the missing protein leads to complete muscle atrophy and weakness, characterised by degeneration of the anterior horn cells in the spinal cord and motor nuclei in the lower brainstem, resulting in progressive muscle weakness and atrophy. Patients have difficulty moving, breathing, swallowing, speaking and walking. Children have to be put on ventilator support, they cannot hold their head independently or feed, with the condition progressively leading to rapid deterioration and consequently loss of life. SMA is the most common monogenic cause of infant mortality. It affects approximately 1 in 11,000 live births worldwide.
When both parents are carriers, their babies have a 25 per cent chance of having SMA1 missing protein. Almost all children who have the genetic defect will have the disease.
Treatment began at eight months of age
In the case of these Emirati twins, Dr Matlik said the parents had taken them to various doctors and finally came to him when the children were six months old. “In case of this disease, the earlier the gene therapy is given the better it is as the neurons cannot survive without protein. Once the neurons die, there is no way to revive them. Early diagnosis and intervention is the key, within the first few months of birth. In case of these children, I diagnosed them within five days after they came to me,” Dr Matlik said.
The only treatment for SMA is gene therapy and it can be done up to two years of age.
In February, treatment commenced under Dr Matlik and by March 2021, the twins received AVXS-101 (onasemnogene abeparvovec) gene therapy, approved by the United States Food and Drug Administration (FDA), designed to target the missing SMN1 gene by delivering a functional copy to make enough proteins necessary for nerve function. It is a very expensive, one-time injectable therapy. Over the last few months, this advanced gene therapy has done wonders in enhancing the condition of the twins, explained Dr Matlik.
“There has been a remarkable improvement in both Hamdan and Abdel Aziz. The most important change is that they are able to breathe normally without oxygen support. They can now maintain head control and are even sitting for a few seconds without support. All these achievements are not usually seen in one-year-old SMA patients without treatment,” confirmed Dr Matlik.
The parents of the twins were the first to notice a difference in them. Al Hassani said: “We reached a point where we had lost all hope. Thank God, there has been a noticeable improvement in movement after the treatment. Not only have they started making sounds, but they are also managing to feed.”
From being on a ventilator to being able to breathe on their own, these twins have come a long way. Dr Matlik and his team are happy with the progress in Hamdan and Abdel Aziz and are glad they are achieving their developmental milestones.
While the medical professionals will continue monitoring the improvement in motor development, the next course of action is to provide the twins with good rehabilitation support. Through physiotherapy and occupational therapy, the focus will be on helping them develop strength and movement abilities. According to Dr Matlik, rehabilitation will empower the children to function at the best possible level. “The parents are very happy seeing the twins interacting with them and reaching new milestones,” said Dr Matlik, adding that they now need to experience emotional support and a sense of safety in their journey to full recovery.
Watch your infant for telltale signs of SMA
Dr Matlik urged people to pay close attention to the warning signs of SMA1. He said: “If parents notice symptoms such as muscle weakness or lack of motor development in their babies, it is imperative to get a check-up done immediately. Please remember that earlier treatment can lead to better recovery.”
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Prenatal screening a must
Dr Matlik told Gulf News: “The only treatment for SMA is gene therapy and it can be done up to two years of age. However, if the child receives the missing protein within the first few months of birth, maximum neurons can be saved. If the neurons die out then there is no hope for survival. Therefore, I request parents who suspect they have the SMA dormant gene to have their child undergo prenatal screening before birth. If diagnosis is confirmed then the gene therapy can be given as soon as the child is born and chances of recovery are 100 per cent in such cases,” he explained.
Dr Matlik, who is leading the gene therapy treatment at Burjeel Hospital, Abu Dhabi, has two other infants under his watch, who are currently undergoing assessment for a similar condition.