What is Spinal Muscular Atrophy disease? Why does the injection to treat it cost ₹16.9 crore?

Novartis, the Switzerland-based pharmaceutical giant, supplied the drug free of cost to Ellen.

What is Spinal Muscular Atrophy disease?

SMA is a genetic disorder that makes the muscles weaker and causes problems with movement. It’s a serious condition that gets worse over time.

SMA mostly affects babies and children, and makes it hard for them to use their muscles.

When a child has SMA, there’s a breakdown of the nerve cells in the brain and spinal cord. The brain stops sending messages that control muscle movement.

The word atrophy is a medical term that means smaller. With SMA, certain muscles become smaller and weaker due to lack of use.

Symptoms of SMA

• Floppy( low muscle tone) or weak arms and legs
• Movement problems, such as difficulty sitting up, crawling or walking
• Twitching or shaking muscles
• Bone and joint problems, such as an unusually curved spine
• Difficulty in swallowing
• Difficulty in breathing.

Who might get spinal muscular atrophy?

A person with SMA inherits two copies of a missing or faulty (mutated) survival motor neuron 1 (SMN1) gene. One faulty gene comes from the mother and the other comes from the father. An adult can have a single copy of the defective gene that causes SMA and not know it.

Diagnosis

SMA can be hard to diagnose because the symptoms are quite similar to other conditions.

Over a period of time, doctors may order several diagnoses which help them determine that the child is suffering from SMA.

These diagnoses are mostly blood tests to check creatine kinase (CK), nerve tests such as an electromyogram (EMG), and muscle tissue biopsy, among others.

Treatment

There is no cure for SMA. Treatment depends upon the type of SMA, and the patient’s symptoms.

Among the medicines for SMA’s treatment is Nusinersen. A different medication, Risdaplam, helps adults and children older than two months. Taken daily, Risdaplam is administered orally. Patients have to continue taking these medicines for life.

Why is Zolgensma the costliest injection?

The latest drug available for SMA-1, administered intravenously, is onasemnogene abeparvovec-xioi (Zolgensma), the costliest in the world.

Ellen has been infused with Zolgensma.

Zolgensma is designed to target the genetic root cause of SMA with a one-time-only dose. It replaces the missing or non-working survival motor neuron 1 (SMN1) gene.

The new gene tells motor neuron cells to produce more survival motor neuron (SMN) protein. Motor neuron cells need SMN protein to survive and support muscle functions.

This drug was first approved on May 24, 2019, by the US Food and Drug Administration. The Wholesale Acquisition Cost of Zolgensma is $2.125 million — ₹16.9 crore, according to Novartis, the US-based Swiss biopharmaceutical company that manufactures the drug.

The cost of this drug is high because of the small market size and its potential to save lives.

The price per patient for an orphan drug — a drug for a rare disease — is often much higher, because of the fixed research and development costs.

Clinical research of rare diseases requires significant investments and due to limited return from the drugs, its costs are high.