New Delhi | Jagran Lifestyle Desk: So far it has been observed that the discussions on rare diseases in this country have been limited to pricing and the challenge of accessibility. However, this should not be the case and a few uncommon health conditions like Spinal Muscular Atrophy (SMA) require your immediate attention to understand its severity and impact.

The maximum we know about SMA is through crowdfunding stories, or through various media reports on the compassionate use programs where patients have received the ‘world’s most expensive drug’. However, these things are just the tip of the iceberg.

There is so much more about the disease that we are not aware of. Therefore, Dr. Piyanshu Mathur, Consultant Pediatric Rare Disorders, JK Lone Hospital, Jaipur, Rajasthan has shed some light on SMA and the severity of the health condition.

What is Spinal Muscular Atrophy (SMA)?

SMA, or spinal muscular atrophy, is a one of the leading genetic cause of death in infants and 5q SMA is the most common form of the disease. The condition causes muscle weakness and progressive loss of movement and significant unmet need remains, both for children and adults. In children, there is the unmet need of survival. A significant percentage of infants with the most severe variety die before their second birthday. The disease is complicated by respiratory problems, spine curvature, difficulty in swallowing etc. Simply put, a patients’ muscles weaken as they progress with age.

Importance of Recognising Early Signs

Due to the lack of SMA screening of newborn babies in India, we often miss or delay the diagnosis. In such cases, the clinical diagnosis is highly reliant on pediatricians for recognising these early signs.

  • Spinal Muscular Atrophy is usually spotted when babies are lethargic and have delayed milestones.
  • The child fails to meet usual milestones such as holding their head up or rolling over. 
  • Some children even experience trouble breathing.

Timely diagnosis will ensure appropriate interventions to either prevent future development or limit the severity of the condition. Early detection can take place through screening of every newborn child for genetic diseases including SMA. Also, priority screening of children of couples with previous history and family history of SMA would help. Late diagnosis therefore can be the difference between a child being able to walk or run or sit unaided.

Best-in-class treatment options are now available

The SMA which affects at least one in 10,000 live births worldwide only has three treatments approved by the Food and Drug Administration (FDA) – Risdiplam (Evrysdi) by Roche Pharma, Zolgensma by Novartis, and Spinraza by Biogen. These treatments have proven to alter the course of SMA in infants, for example, helping them lift their heads, sit up or walk when they may never have done so otherwise. Even simple actions like sharpening their pencils or holding a glass of water is a milestone achieved with targeted therapy such as these.

In India, we have heard cases of children going for Zolgensma- the gene therapy which is one of the most expensive treatment options in the world. However, it is not the only option. The recent approval by the Indian regulator for Evrsydi - an oral treatment by Roche throws up an interesting and more viable option for many in India. Given that we now will have an approved treatment option in India, it can bring about a remarkable change in the standard of care for a disease that for years had no available treatment in India. The availability of Evrysdi in India presents a unique choice between gene therapy that is administered intravenously at a health center and daily medicine that can be taken at home. What is also heartening to see is that a treatment option that was approved in the USFDA just a few months back is now available in India.

Till now, the conversation about SMA in our country has been confined to the cost of existing medications and how to obtain them through crowdfunding. There is a need to start a larger conversation about SMA, the ways of early detection, treatment options and how it affects patients and their families.

(Disclaimer: The writer, Dr Piyanshu Mathur, is a Consultant Pediatric, Rare Disorders at JK Lone Hospital, Jaipur, Rajasthan. The views expressed in this article are those of the author and do not represent the stand of this publication.)

Posted By: Sanyukta Baijal