Abu Dhabi: A pair of seven-month-old Emirati twins have successfully received advanced gene replacement therapy at an Abu Dhabi hospital to treat their highly fatal genetic condition.
The twins were born with Spinal Muscular Atrophy — Type 1 (SMA1), a rare and devastating monogenetic neuromuscular disease, also known as Werdnig Hoffman disease, which is caused by a defective or missing survival motor neuron gene (SMN1). The disorder affects the voluntary muscles of the body, resulting in rapid and irreversible loss of motor neurons, which then affects all muscle functions, including breathing, swallowing and basic movement. Over time, the condition leads to progressive muscle weakness, paralysis and even death if left untreated.
The twins were diagnosed after visiting Burjeel Hospital for a neurological assessment with consultant paediatrician and child neurologist, Dr Hussein Matlik.
“The symptoms of this devastating disease start manifesting in children in the first six months of their lives and if left untreated, the disease can lead to death or the need for permanent ventilation by the age of two in more than 90 per cent of cases. The first consultation with the babies showed that they were severely weak, had decreased muscle tone and areflexia or the absence of neurologic reflexes. This led us to do a genetic test, and as a result, the SMA diagnosis test came back positive for both babies,” Dr Matlik said.
“We knew that we needed to act fast and Burjeel Hospital made every arrangement for the transformational treatment to be carried out as soon as possible. Based on the available data, we are confident about the success of the [gene replacement] therapy. This is a big achievement for the hospital, and also another success story for the UAE’s health-care ecosystem,” the doctor added.
Under the supervision of Dr Amro El-Saddik, health-care excellence director at VPS, Burjeel’s parent company, the babies were treated with AVXS-101 (onasemnogene abeparvovec) gene replacement therapy. This potentially transformational therapy targets the root cause of the disease with a single dose by introducing a functional SMN1 gene to restore SMN protein expression. Available data for previous administration of the therapy is reassuring and shows that the treatment is both effective and safe.
Rashid Al Hasani and Mona Ali, the twins’ parents, said they were optimistic about the treatment. “We are incredibly grateful to Dr Matlik and the team at Burjeel Hospital for diagnosing our children so swiftly and offering this life-saving gene therapy. We are feeling very positive and we hope Allah is listening to our prayers and will shower His blessings upon our children and our family,” they said.