Today's Edition
A. SREENIVASA REDDY (ABU DHABI)
A three-year-old child from Turkey suffering from spinal muscular atrophy (SMA) has been administered a newly licensed intrathecal gene therapy at a UAE hospital, marking a significant expansion in treatment options for older and heavier patients previously ineligible for gene therapy.
The child, Hulus, received the one-time treatment at Medcare Women & Children Hospital in Dubai. SMA is a rare genetic neuromuscular disorder that progressively weakens the muscles responsible for movement, breathing, and swallowing due to the absence or malfunction of the SMN1 gene. The newly approved therapy addresses the root genetic cause by delivering a functional copy of the SMN1 gene directly to the affected motor neurons.
Unlike earlier gene therapies that were largely restricted to infants and very young children, the intrathecal formulation allows treatment for patients over the age of two, regardless of higher body weight.
Explaining this distinction in an exclusive interaction with Aletihad, Dr Vivek Mundada, Consultant Paediatric Neurologist, said that in SMA care, the term “older patient” refers to children above two years of age rather than adults. He noted that previous intravenous gene therapy was limited to children under two years and below 21 kg due to safety concerns associated with delivering high viral vector doses into the bloodstream.
The injection is given through the lower back, between the vertebrae. “By delivering the gene therapy directly into the cerebrospinal fluid, the medicine reaches the motor neurons, which are the primary cells affected in SMA,” Dr Mundada said.
“This allows much lower doses to reach the spinal motor neurons more efficiently, removing earlier age and weight limitations and making treatment possible for older children, adolescents and even adults.”
The therapy administered to Hulus — onasemnogene abeparvovec intrathecal — was first approved by the US Food and Drug Administration in 2024 and subsequently authorised in the UAE by the Emirates Drug Establishment, with clinical oversight by the Department of Health – Abu Dhabi. The approval permits its use in SMA patients over two years of age, significantly widening access to gene therapy in the region.
For Hulus, whose daily life had earlier depended on intensive physiotherapy and hydrotherapy, the procedure offered an alternative to lifelong injections. His father, Mustafa, said the treatment had renewed hope for improved independence and quality of life for his son.
“This is a defining moment for SMA care in the region,” said Dr Shanila Laiju, Group Chief Executive Officer of Medcare Hospitals & Medical Centres. “Families whose children were previously ineligible for gene therapy now have access to a revolutionary treatment that can significantly improve outcomes.”
Dr Mundada said SMA affects approximately one in 10,000 live births globally, with between one in 40 and 60 people worldwide carrying the gene mutation. While precise prevalence data for the UAE are limited, higher carrier rates in the region mean the condition is regularly encountered in specialist paediatric neurology services. He added that increased awareness, newborn screening initiatives and access to advanced therapies are steadily improving outcomes.
Since 2020, Medcare has treated more than 180 children with SMA, welcoming families from countries including Iran, Turkey, Nepal, Romania, Russia, Kazakhstan, Kyrgyzstan, Ukraine, Belarus, Lebanon, India, and Ethiopia.
Short-term follow-up data for the first 60 treated patients, published in the peer-reviewed journal “Muscle & Nerve,” showed meaningful improvements in motor function, disease stability, and quality of life, even among children with advanced disease and those requiring invasive ventilation. Longer-term follow-up studies involving around 180 patients worldwide are ongoing to assess durability, safety and sustained functional outcomes.
According to the hospital, SMA care is delivered through a multidisciplinary model involving neurology, pulmonology, orthopaedics, rehabilitation, genetic counselling and long-term follow-up, particularly for international patients.
The introduction of intrathecal gene therapy for older patients represents a pivotal advancement for families who had previously exhausted treatment options or were told their children did not qualify for gene therapy, Dr Laiju told Aletihad.
