Gene Therapy for Spinal Muscular Atrophy (SMA)

by yogalife_user
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Spinal Muscular Atrophy (SMA) is a genetic condition that makes the muscles weak and can be fatal and life-limiting. It is a condition found in babies at birth and a baby with a severe condition may not survive beyond infancy. There is a revolutionary gene therapy that exists, which is the world’s most expensive therapy, and costs about US $2.1 million and, not affordable for many patients.

Keeping this in mind, a company called AveXis has launched a program called ‘The Managed Avexis Program – (MAP)’. Under this program, every 15 days, they pick out names of the patients who require this therapy and offer it for free to them.

Medcare Women & Children Hospital are happy to announce that 2 of their patients under Dr. Vivek Mundada – Paediatric Neurologist, have been selected for this free therapy for the first time in the UAE.

Infants with this condition are unlikely to survive beyond 2 years of age but with this gene therapy, they can lead a normal or close to a normal life. Medcare has the expertise to conduct this treatment for its patients, which is sure to be a turning point in their lives.

What is gene therapy and how effective is it?

Spinal Muscular Atrophy is a genetic condition in which a gene called SMN1 is deleted or mutated in the affected individual. This gene is responsible for producing a protein called SMN that causes normal functioning of the nerves which control muscle strength and movement. In the absence of this protein, the muscles are not strong enough and the affected children are very floppy and weak. We have two copies of each gene and if both the copies of SMN1 are absent, the person suffers from SMA. In its severe form (SMA type 1), children usually never can sit or rollover. Muscles of breathing and swallowing can also get affected causing life-threatening complications

Gene replacement therapy (“onasemnogene abeparvovec-xioi”) essentially means replacing a fully functional copy of the missing SMN1 gene which is the root cause of the SMA disease. The SMN1 gene is inserted into a non-infection causing virus vector called adeno-associated virus (AAV) and this viral vector with the replacement gene is intravenously injected as a single dose into the patient’s blood. The gene then enters targeted body cells and starts producing the missing SMN protein.

Children with SMA1 who usually never achieve the developmental milestone of sitting and have received this gene replacement therapy have learned to sit and have survived with good quality of life. Some have even achieved the milestone of walking. This therapy changes the natural course of the disease as their muscle power increases significantly and hence is the life-saving drug for this condition.


Information courtesy:  Medcare Women & Children Hospital.

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