Qatar has become the third country in the world to administer Itvisma (onasemnogene abeparvovec), a one-time gene replacement therapy for spinal muscular atrophy, after Sidra Medicine treated a 13-year-old boy in a single intrathecal procedure.
The patient, Khalid, has lived with the rare neuromuscular disease since early childhood. Sidra Medicine, a member of Qatar Foundation, is the first hospital in the country to deliver the therapy, which is registered with the Ministry of Public Health.
Spinal muscular atrophy is caused by a missing or non-functioning survival motor neuron 1 gene, leaving the body unable to produce enough of the protein that motor neurons need to survive.
Itvisma addresses that genetic cause directly by delivering a working copy of the gene.
The treatment was given through a single injection into the spinal canal in interventional radiology, allowing the team to work under real-time imaging — a critical advantage in patients with severe scoliosis. It followed months of preparation across a dozen specialties, from genetics and neurology to pharmacy, anaesthesiology, physiotherapy and orthopaedic spine services.
Prof Ibrahim Janahi, Chief Medical Officer at Sidra Medicine, said the case marked a milestone for rare disease care in Qatar. "Our priority is to ensure that eligible patients and their families can access advanced therapies closer to home through a co-ordinated care pathway that supports them before, during, and long after treatment," he said.
Prof Tawfeg Ben Omran, Division Chief of Genetics and Genomic Medicine, said the field had shifted decisively. "For decades, spinal muscular atrophy was considered a relentlessly progressive disease with limited treatment options.
Gene therapy is changing that reality by allowing us to move beyond managing symptoms and toward addressing the disease at its genetic source."Dr Walid Mubarak, Senior Attending Physician in Interventional Radiology, said the imaging-guided approach let clinicians position the needle precisely while maintaining patient safety throughout.
Khalid's family had travelled abroad for years in search of options. "Seeing Khalid receive this therapy here in Qatar is a dream come true," his mother said.
A high-performing student at Qatar Academy Sidra, Khalid intends to study medicine. "The first thing I want to do is take my mother to Makkah and Medina," he said.
He will remain under scheduled follow-up covering laboratory monitoring, motor function, respiratory health and rehabilitation.
