Spinal Muscular Atrophy Even World’s Costliest Injection Could Not Save Vedika’s Life

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Vedika was suffering from spinal muscular atrophy and she was administered the world’s costliest injection zolgensma last month after Rs 16 crore was raised through various crowdfunding platforms.

Vedika suffered from spinal muscular atrophy, a rare disease that occurs due to a single missing gene and results in progressive muscle wasting.
Vedika had been administered the world’s costliest injection at Rs 16 crore a month-and-a-half ago to bring her out of her debilitating state.

After the injection was given to Vedika last month, there was improvement in her condition. Before the injection was given, she could not hold her head and was always bed-ridden. But afterwards, she could make movements.
There were 17 such children in India who have been given this injection. “Vedika was the second one from Pune…The first one made a recovery after the injection.

What is spinal muscular atrophy

Spinal muscular atrophy (SMA) is a genetic disease affecting the central nervous system, peripheral nervous system, and voluntary muscle movement (skeletal muscle).

Chromosome 5 SMA is caused by a deficiency of a motor neuron protein called SMN, for “survival of motor neuron.”
SMN plays a pivotal role in gene expression in motor neurons.
Its deficiency is caused by genetic flaws (mutations) on chromosome 5 in a gene called SMN1.

SMA symptoms cover a broad spectrum, ranging from mild to severe.
SMA type 0 is the most severe form of the disease and is characterized by decreased fetal movement, joint abnormalities, difficulty swallowing and respiratory failure.
Vedika suffered from type 1 disease.

In chromosome 5-related SMA, the later the symptoms begin and the more SMN protein there is, the milder the course of the disease is likely to be.
While in the past, infants with SMA typically did not survive more than two years, today most doctors now consider SMN-related SMA to be a continuum and prefer not to make rigid predictions about life expectancy or weakness based strictly on age of onset.
SMA is the most common genetic cause of mortality in infants.

This drug, which was first approved on May 24, 2019 by the US Food and Drug Administration, was approved by the United Kingdom’s National Health Services (NHS) on March 9, 2020.
It is manufactured by US-based Swiss bio-pharmaceutical company Novartis Gene Therapies.
Zolgensma is the second and most effective drug for the disorder. The reason for its exorbitant cost is its miniscule market size in the drug manufacturing industry and its potential to save lives.
Spinraza (nuninersen) was the first drug approved for children and adults with SMA by the US FDA in December 2016. Spinraza is an injectiadministered into the fluid surrounding the spinal cordon.
In August 2020, FDA announced the release of a third drug called Evrysdi (risdiplam) to treat patients as young as two months. This is the first oral drug to treat the disease.

According to the NHS, the drug contains a replica of the missing gene.
The active ingredient onasemnogene abeparvovec passes into the nerves and restores the gene, which then produces proteins necessary for nerve function and controlling muscle movement. The dose is determined based on the weight of the patient.
“This drug is a one-time intravenous infusion which is administered on a patient for over an hour and is used to treat children under two years of age.”
The expensive injection has been available in the US for the past two-three years.
There are no long-term studies about the injection but studies in the US have recommended its use in such cases because of its proven effectiveness.