The 4 Types of SMA, Potential Treatments and The World’s Most Expensive Drug

By: Zahabiya, Diamond

Published On: November 30, 2021

It's heartbreaking when a loved one is suffering from a rare disease. It can be even more difficult to bear when that loved one is a baby - a child, who has barely even registered anything about life, let alone seen or experienced it. Add to this situation, the realisation, that the medical treatment required to cure them of their illness, while readily available, is far out of one’s immediate financial means. Being so close and yet so far away from saving one’s child’s life, can be nerve-wracking, which is why more and more parents have resorted to non-traditional fundraising methods.  


We, at ImpactGuru, have seen many parents and families come face to face with this realisation of lack of funds being the only thing standing in the way of their child’s recovery. By crowdfunding on our fundraising platform, they have received financial help for medical treatments in India. Read on to know more about the different types of SMA and its various treatments below: 


What Is Spinal Muscular Atrophy a.k.a SMA?




SMA affects 1 in 7,744 live births in India and is one of the most common genetic causes of death in infants and toddlers. Below is a simplified definition of SMA:  


  • SMA is a genetic disorder characterised by muscle weakness and atrophy. Atrophy here means the decrease in size or wasting away of a body part or tissue.


  • SMA can make it difficult for a kid to crawl, walk, sit up, or regulate their head movements. It can also harm the muscles that control breathing and swallowing.


  • SMA is divided into four types or categories. Some appear earlier and with greater severity than others. 


The 4 Types of SMA: Age, Symptoms and Severity


Type 1- SMA Type I affects infants from birth to 6 months of age, with the majority of babies showing symptoms by 3 months. This type of SMA is the most severe with symptoms including trouble while eating and moving. Currently, Type 1 SMA is most commonly crowdfunded for in India because:


  1. Medical Emergency: Without treatment for Type 1 SMA, children do not live beyond the age of 2. They are also more prone to respiratory infections and pneumothorax (collapsing lungs).

  2. Unaffordability of Treatment: Owing to Type 1’s severity, the overall medical care usually includes gene replacement therapy, the cost of which can be exorbitant and unaffordable. In fact, Zolgensma, an FDA approved treatment for Type 1 SMA costs a whopping Rs. 16 crores!


Type 2- is more intermediate in nature, with children showing symptoms between the ages of 6 and 18 months. With this type of diagnosis, children can sit without support but cannot walk on their own. 


Type 3- Children diagnosed with Type 3 SMA are those who develop symptoms after 18 months of age. Some signs may not be visible until later in childhood. These young patients experience difficulty in climbing stairs and may lose the ability to stand and walk as they grow older. While foot deformities and respiratory muscle weakness are common, Type 3 SMA does not significantly shorten the patient’s lifespan.


 Type 4- ‘The adult version of SMA’ - Type 4 - usually doesn't show up until the patient's mid-thirties. The signs of muscle weakness develop slowly, making it the mildest form of SMA. Most people with Type 4 are able to live full lives.


Treatments For SMA - Includes World's Costliest Treatment:




Due to a lack of treatment options, SMA was believed to be incurable until 2016. However, there are currently a variety of medical treatments approved and available that can help patients with SMA live a better life. Below are three FDA approved treatments for SMA-


1) Zolgensma- Zolgensma is a one-time gene therapy shot for SMA-Type 1 that costs Rs 16 crore and is effective on children under the age of 2.According to a study by Novartis Gene Therapies, Inc. It is said to be the world’s most expensive drug.


  • The FDA authorised Zolgensma on May 24 2019, a gene therapy product for children under the age of two who have spinal muscular atrophy (SMA) caused by bi-allelic mutations in the surviving motor neuron 1 gene, which is the most severe form of SMA.


  • Zolgensma is administered via an hour-long intravenous (IV) infusion and is a one-time procedure. 


  • Zolgensma is not manufactured in India and must be imported from the United States if recommended by a physician. The one-time use of Zolgensma, according to Novartis, a global healthcare company, is ultimately more cost-effective than other medications that need years or lifelong treatment cycles.





2) Evrysdi (Risdiplam) - Evrysdi (risdiplam) is the first oral medicine to treat people living with a wide range of SMA types. It is used to cure adults as well as children aged 2 months and older. A single bottle with a dosage of 0.75 mg/ml powder for oral solution costs approximately Rs 6 lakh in India. 


  • Genentech, a Roche Group company, collaborated with the SMA Foundation and PTC Therapeutics to develop the medicine.


  • Evrysdi (risdiplam) was first approved by the US FDA in August 2020 for the treatment of SMA in adults and children aged two months and up. As per a statement by Roche Pharma to the Economic Times, Evrysdi has benefitted over 4000 patients with SMA across 50+ countries.


  • It's an SMN-boosting treatment that works by targeting the SMN2 gene. Evrysdi is a tiny chemical that instructs the gene to produce more full SMN protein.


Evrysdi can be administered at home and needs to be taken daily. One bottle will last 12 days for a patient who weighs more than 20 kg. In the maximum use case, this equates to around 31 bottles every year. As it is a more long term treatment, Evrysdi’s cost can come up to crores when added up over the years.


2) Spinraza (Nusinersen)- Spinraza is the first FDA approved treatment for SMA patients. It is beneficial for people across age groups and different types of SMA. 


  • Spinraza (nusinersen), the first medicine licenced for the treatment of spinal muscular atrophy (SMA) in paediatric and adult patients. It was approved by the US Food and Drug Administration (FDA) on December 23, 2016.



“SPINRAZA is an intrathecal injection, or an injection into the fluid of the spine, by a healthcare professional (HCP) experienced in performing lumbar punctures.
The dosing schedule begins with 4 initial loading doses; the first 3 occur in 14-day intervals and the fourth dose 30 days after the third dose. After these initial doses, SPINRAZA is administered in maintenance doses 3 times a year.”
- Spinraza’s Official Patient Site 

  • A Spinraza injection costs approximately Rs 87 lakh for a single dose.


SMA Patients on ImpactGuru who received financial help for medical treatment in India




Medical Crowdfunding Helped Ayaansh Get The World’s Most Expensive Treatment 


Little Ayaansh was diagnosed with SMA - Type 1 when he was just 6-months-old. Due to the severity of his condition he needed Zolgensma, the cost of which is an exorbitant Rs 16 Crores! Not one to lose hope, his parents started an online fundraiser on ImpactGuru at the earliest. Ayaansh’s story touched the hearts of thousands of people across social media platforms. Within 119 days, his online fundraiser raised 14.28+ crore from 62,467 kind donors which helped Baby Ayaansh get Zolgensma just in time!




Help Ayra Fight SMA Type 2


6-year-old Ayra was diagnosed with SMA- Type 2 just before her 2nd birthday. Here is an excerpt from her fundraiser story,


“When my Ayra was born, we were over the moon! Due to our initial miscarriage, we were a little extra-careful for her. However, fate has cast its evil eyes over us! 
When my angel, Ayra, was about to turn a year old, she started showing odd symptoms. She couldn’t crawl much or couldn’t even sit on her own. After consulting a local doctor, we concluded that it was a developmental delay. However, as time passed, she was growing weaker and weaker…”
- 6-year-old Ayra’s mother

 

Ayra’s condition deteriorates day by day consequently increasing the urgency with which she requires Risdiplam. The cost of this treatment comes to Rs 5 crores and is unaffordable for the family. However, together, by donating an amount as little as Rs. 100, we can help save little Ayra’s life before it’s too late. So far, 2143 donors have come together to support Ayra already. You can join them by clicking the link below: 


To donate to Ayra’s fundraiser or know more about her story, click here:


https://www.impactguru.com/fundraiser/save-ayra-siddiki-3-mk




To know more about SMA, click here: https://www.impactguru.com/blog/A-Rs-16-Crore-Treatment-For-A-Disease-That-Took-India-By-Storm-What-Do-We-Know-About-SMA


To read stories of SMA Type 1 survivors, visit the following links:


  1. Teera

  2. Baby Ayaansh


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