Six-year-old Turkish boy with rare genetic disorder gets ground-breaking gene therapy treatment at Medcare Women & Children Hospital

Medcare Women & Children Hospital, which has successfully treated over 120 patients with Spinal Muscular Atrophy (SMA) from across the world, has now introduced a new ground-breaking treatment in the UAE for Duchenne Muscular Dystrophy (DMD). Cinar Atar, a six-year-old boy from Turkey, suffering from this genetic condition has been successfully treated with the novel gene therapy.

DMD is the most common form of muscular dystrophy, a rare genetic disorder that causes skeletal and cardiac muscle weakening in predominantly boys, causing severe disability and premature death if not treated properly. It is a rare muscle disorder affecting approximately 1 in 3,500-5000 male live births worldwide.[1]

Cinar’s parents discovered his symptoms during a normal routine health checkup in Turkey when he was four years old. His leg muscles were weaker, prompting additional examinations and genetic testing to confirm the diagnosis of Duchenne Muscular Dystrophy (DMD).

Dr. Vivek Mundada, Consultant Paediatric Neurologist at Medcare Women and Children Hospital, described the medical condition as progressive muscle degeneration and weakness. “It is caused by mutations in the dystrophin gene, which is required for muscle integrity. Muscle cells get injured and weaker over time in the absence of dystrophin. DMD usually becomes apparent when boys start walking at approximately around 15-17 months. Cinar’s lack of dystrophin resulted in considerable muscle underdevelopment, notably in his legs, severely limiting his activities like running and climbing”.

“The new gene therapy, which is only administered once, has shown promise in over 400 patients worldwide. However, there are limited medical facilities around the world that offer this treatment”. he added.

At present, the UAE, USA, and recently added in the list, Qatar, are the only countries that provide gene therapy for DMD. With no treatment options available in Turkey, Cinar’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.

Recalling their experience at the time, the boy’s parents shared, “We were devastated by Cinar’s diagnosis and sought every possible way to help him. Volunteers and charities suggested that we seek treatment in Dubai at the Medcare Women and Children Hospital as it was the only private hospital outside the US offering the treatment our child needed to be able to lead a full life.”

Families with children like Cinar who are unable to travel to the US often seek out medical facilities like Medcare Women and Children Hospital as a ray of hope, and it is in these situations that Dr. Vivek and his multidisciplinary team are called upon to help.  “Our method comprised a complete evaluation and infusion of the medication, a prescription gene therapy that is one of the world’s most expensive life-saving treatment. 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. Following the infusion, we carried out a comprehensive post-infusion monitoring and observation for five to eight weeks, during which the child came in for weekly blood tests, physiotherapy and rehabilitation. This multidisciplinary effort was crucial in ensuring the best possible outcome for Cinar,” he said.

Commenting on the importance of continuum of care in cases like Cinar’s, Dr. Vivek said, “At Medcare Women and Children Hospital, we ensure that our patients receive comprehensive support from the moment they arrive until they return home. Through facilities like teleMEDCARE, our telemedicine platform, we offer real-time monitoring and continuous care post-infusion and discharge. This allows us to track the patient’s progress closely, provide necessary medical advice, and address any concerns promptly.

“This type of end-to-end patient experience ensures that patients like Cinar receive the best care possible even after they leave the hospital. Our physiotherapists also work with parents, guiding them on how to support their child’s rehabilitation journey once they return home. This holistic approach ensures that our patients have the best chance at a full recovery and a better quality of life,” he further elaborated.

Expressing their gratitude, the boy’s parents said, “We are immensely grateful for the health of our child and the expertise of Dr. Vivek and the medical team. Their commitment and expertise have given our son a new lease of life.”