Gene therapy a success in treating twins in UAE

Mariecar Jara-Puyod, Senior Reporter

There is hope for infants stricken with the rare inherited disease called Spinal Muscular Atrophy (SMA) which comes in four types and initially discovered in the 1890s by Austrian neurologist Guido Werdnig and German neurologist Johann Hoffman.

However, family members and parents must not tarry in seeking consultations with a paediatric neurologist, if and when they notice something absurd in the muscle development and mobility of these children.

“This (SMA) is treatable. If the family sees and observes their newborn is not progressing and if they have a history of muscle disease, it is best that they bring the baby to the paediatric neurologist for early diagnosis. If they notice symptoms like muscle weakness or lack of motor development in their babies, it is imperative to get a check-up done immediately,” Dr. Hussein Naseer Matlik said.

He added: “In the UAE is a gene confirmation test. The results are available between three and five days. We can treat the disease provided the patient receives the gene therapy within the first one and two months maximally.”

The gene therapy which the Burjeel Hospital-Paediatrics Department (Abu Dhabi) head referred to, is known generically as Onasemnogene Abeparvovec (AVXS-101). This reporter reached out to him on Wednesday when notified that his patients, one-year-old Emirati twins Hamdan and Abdel-Aziz, had been discharged last Aug. 16 (Monday).

Among the Gulf Today news on March 1, 2021, was the twins’ Feb. 24 (Wednesday) one-and-a half hour (10:30am to noon) infusion of the single dose advanced gene therapy replacement. The twins were seven months old at the time of the infusion. Their parents Rashid Al Hasani and Mona Ali, then expressed gratefulness to Allah and to the hospital management. They consented to the medical treatment for their sons, after the genetics test which Matlik had highly recommended, revealed these boys were suffering from SMA Type 1, otherwise known as the Werdnig-Hoffman Disease.

Werdnig-Hoffman Disease is the first type of SMA to be discovered existing within families by no other than Austrian Werdnig and German Hoffman and thus the attribution. SMA is a deteriorating neuromuscular abnormality due to the absence of the motor neurons nerve cell which commands muscles to move. Without mobility or movement, the muscles fail to develop, and become weak and wasted. In the article “Neurology and Pregnancy: Neuro-Obstetrics Disorders” Columbia University Medical Centre (New York City, USA) Neurology professor Louis H. Weiimer wrote: “SMA is the most common fatal autosomal recessive disorder and results in severe progressive weakness. Subtypes 1 to 4 are based on the onset age and motor milestones. Weakness onset ranges from prenatal to adulthood. Prevalence is approximately one to two per 100,000 persons and incidence is around one in 10,000 live births.”

On Wednesday, Matlik who, in his 20 years of medical expertise, had encountered 10 SMA cases at the Tawam Hospital and five at Burjeel Hospital (Abu Dhabi), recounted “the wonders” AVXS-101 had given to Hamdan and Abdel-Aziz: “There are remarkable improvements in both (the twins). The most important change is that they are able to breathe normally without oxygen support. They no longer need ventilators. They can now maintain head control and are even sitting for a few seconds without support. All these achievements are not usually seen in one-year-old SMA patients without treatment.”

Matlik was grateful for the discovery of the AVXS-101 and repeating his days at the Tawam Hospital also in Abu Dhabi, he said: “I have a large experience in this field. Unfortunately, there was no treatment at that time. Only rehabilitation support.”

According to the “International Journal of Applied and Medical Research website, AVXS-101 was researched and developed by the Swiss pharmaceutical firm Novartis. This passed the standards and was approved by the US Food and Drug Administration on May 24. 2019. It has been used since then for SMA-stricken children under two years old.