Dubai, UAE 22 August 2022: The mobility of an Egyptian toddler who suffers from a rare genetic condition that causes muscle weakness and can affect a child’s ability to develop is showing improvement following gene therapy treatment at Al Jalila Children’s Specialty Hospital.

Spinal muscular atrophy (SMA) affects up to only one in 10,000 children and can limit the ability to crawl, walk, sit up, and control head movements. Al Jalila Children’s offers one of the largest gene treatment program for SMA in the world and by far the largest program in the UAE’s .

 

Rasheed first visited the hospital 12 months ago ahead of his first birthday and has since undergone a Zolgensma injection. When his clinical team met earlier this month for one-year post-therapy physical and occupational assessments, they found he was demonstrating improved upper limb movement.

“We are pleased with Rasheed’s progress,” said Dr Haitham El Bashir, Paediatric Neurorehabilitation Consultant and Head of Neurosciences Centre of Excellence at Al Jalila Children’s Specialty Hospital. “He can now move his shoulders against gravity while in a sitting position, he can transit from lying to sitting with minimal assistance from his hips, he can stay kneeling for at least five minutes, and he has started to shuffle his way around on his bottom.”

With August marking SMA Awareness Month, Dr El Bashir urged attention among parents and outlined the early symptoms as general floppiness, problems with breathing and swallowing, and continual signs of weakness. 

 

“In our experience the sooner you identify the condition and start the treatment, the better outcome you can achieve,” he said. “Some children can lose some skills they have gained because they become weaker with time and there is a huge risk because the rapidity of muscle deterioration is such that it can affect breathing and swallowing, which can threaten the  child’s life.

 

“Early identification and treatment are beyond doubt significant to the child’s wellbeing because a patient treated at two weeks of age is going to do better than one treated at the age of two. That is why it is especially important to have newborn screening. SMA is easy to diagnose through a simple 24-hour genetic test.”

In the two years since Al Jalila Children’s launched its dedicated gene therapy, the hospital has provided the Zolgensma treatment to 41 patients from 13 countries from across Europe and the Middle East, with largest number of patients arriving from Turkey. “It has made a huge difference to the young SMA patients and their families who previously had to travel to the USA for treatment,” Dr El Bashir added.

 

Rasheed’s mother said she has noted significant improvement since her son started the gene therapy at Al Jalila Children’s a year ago.

“I started to notice that Rasheed had issues with his legs, but several doctors reassured me that it was fine,” said Rasheed’s mother, who returns to the hospital every six months for follow-ups. “When he turned 11 months, he began losing some skills from crawling to sitting and controlling his body. However, his condition began to get better seven months after taking the injection. 

 

“He has since regained the ability to raise and move his arms. Signs of improvement start from the top of the body to the bottom, from the arms to the waist and eventually the legs. Doctors assure me that improvement levels vary from one child to another, so I continue to patiently monitor the condition.”

Rasheed’s mother is now urging all parents to watch their children from birth for signs of SMA and to seek expert medical help immediately should they have concerns. The spinal injection her son received is a one-time infusion that transfers the missing Survival Motor Neurone gene (SMN1) directly into body cells through a virus vector.

 

“In the SMA case, we inject the AAV-9 virus that carries a normal DNA into the cells through an infusion which helps in producing the normal SMN Protein needed for the spinal cord neurons to survive. Children with SMA have a deficiency of SMN protein, which causes nerves that control muscles – the motor neurons – to die. Eventually, their muscles become weak and waste away, with eventual loss of movement and difficulty in breathing and feeding.” added Dr El Bashir.

 

Children as young as two months can display signs of the most common type of SMA, which accounts for 60 per cent of SMA patients. Other recommended treatments include a syrup given to the child for the rest of their life and the Spinraza injections, with four injections to be given in the first two months of treatment and then every four months for the rest of the patient’s life.

Additionally, Al Jalila Children’s has launched the region’s first screening program study into the epidemiology of SMA in Emirati newborns. It is being undertaken at its state-of-the-art Genomics Centre, Dubai Health Authority, and private hospitals, who are examining 6,500 newborns across 10 public and private maternity hospitals in the UAE. 

 

The study aims to identify the number of SMA patients that reside within the country and project how many there are likely to be in the future, to aid government planning for treatment offerings.