Roche has launched an oral treatment for adults and children who are suffering from Spinal Muscular Atrophy (SMA). Named Evrysdi, it is the first and only treatment approved in India for SMA patients.
What is SMA?
Spinal muscular atrophy (SMA) is an inherited illness that causes muscle weakness by gradually destroying motor neurons. These are the nerve cells in the brain and spinal cord that enable one to move, speak, swallow, and breathe by relaying orders from the brain to the muscles that perform these actions.
Those affected by SMA have a mutation of the survival motor neuron 1 (SMN1) gene, which leads to a deficiency of the SMN protein. This protein is essential as it controls muscles and movement and helps in the functioning of the nerves.
The month of August is dedicated to creating awareness about SMA.
SMA is typically diagnosed at around 18 months or during childhood, and is the most common genetic cause of death in infants. It affects roughly one in every 10,000 live births worldwide and one in every 7,744 live births in India, making it the biggest genetic cause of infant mortality.
At present, there is no cure for SMA. However, research to develop treatment is underway. Therapy and assistance are available to help manage symptoms. Individuals with SMA have a normal life expectancy.
What is Evrysdi?
Evrysdi is a powder that is mixed into a liquid and administered orally or via a feeding tube to individuals aged two months and above. It treats SMA by increasing the production of the Survival Motor Neuron (SMN) protein.
After conducting a global clinical trial among 450 volunteers, it was approved by the Indian Health Authorities 11 months after it got its approval from the US FDA. These trials included babies and adult volunteers up to the age of 60. It also included patients who have previously been treated for SMA with other medications.
In order to ensure that people have ready access to this treatment, Roche announced it will provide three bottles free, in the first two years of treatment, for every two bottles bought by the patient. From the third year onwards, two bottles will be given for free, for every one bottle bought by the patient.
Types of SMA
Known as the Werdnig-Hoffmann disease or infantile-onset SMA, >SMA type I usually manifests before the age of six months. Without any treatment, affected children never sit or stand and a vast majority of them usually die of respiratory failure before they're two years old.
Children with >SMA type II usually show symptoms between six to 18 months of age. They can sit without support, but cannot stand or walk. Life expectancy is reduced but they can live into adolescence or young adulthood.
Children with >SMA type III (known as the Kugelberg-Welander disease) exhibit symptoms after the age of 18 months and can walk independently. They may first exhibit difficulties in walking, jogging, climbing stairs, or rising from a chair and may have a tremble in their hands. They can live a normal life if they receive proper care.
Individuals with >SMA type IV experience mild to moderate proximal muscular weakness along with other symptoms, and can develop this illness after the age of 21.