Advances in treatment offer hope to SMA patients — Health News, Firstpost


It is vital to raise awareness of the disease among experts such as paediatricians and neurologists in order to identify its early signs.

Awareness of spinal muscular atrophy: Advances in treatment offer hope to SMA patients

SMA is a rare inherited nerve muscle disease that can deprive a child of the opportunity to live a normal, healthy life before it actually begins.

Muscle atrophy of the spine, or SMA, is a life-changing rare disease that has a crippling effect on a patient’s life.

Here are few global statistics which emphasizes this:

  • Typically, SMA diagnosed in childhood affects approximately one in 10,000 live births worldwide and one in 7,774 live births in India, and is the most common cause of infant death.
  • Sixty percent of SMA patients born each year suffer from type 1 SMA. All of these children need help sitting down. In the natural course of the disease, 68% die before their second birthday and twenty-nine percent of children are alive without permanent ventilation at the age of 14 months.
  • Twenty-nine percent of children with type 2 SMA suffer from severe muscle weakness and are not even able to stand alone.

SMA can deprive a child of the opportunity to live a normal, healthy life before it actually begins. It is a rare inherited neuromuscular disorder characterized by loss of motor neurons in the spinal cord due to a mutation in the SMN1 (Survival Motor Neuron 1) gene.

It occurs in early to late childhood, depending on the genotype with motor developmental disorder, progressive weakness of all four limbs, wastage, and respiratory function.

Five clinical phenotypes are known for SMA: SMA 0, SMA I, SMA II, SMA III, and SMA IV.

Possible complications include fractures, hip dislocation and scoliosis (curvature of the spine), undernourishment and dehydration due to difficulty eating and swallowing, and many develop significant respiratory and breathing problems.

There is a need for better awareness of India

In India, the delay in the diagnosis of SMA is due to the limited number of laboratories performing genetic diagnostic tests and low disease awareness. Parents seek the opinion of a second, third, even fourth doctor from various experts, resulting in fewer treatment options being found as the disease progresses. It is therefore crucial to raise awareness among experts such as paediatricians and neurologists so that they can identify early signs of the disease, such as delayed or sleepy milestones in development.

Timely diagnosis and early initiation of treatment can help SMA infants survive and significantly improve quality of life by achieving motor milestones such as the ability to sit without support, the ability to turn sideways, the ability to stand with support, the ability to swallow, and other engine functions defined by engine performance. on a quantitative scale.

SMA treatments

Globally, there are only 3 approved treatments for SMA, namely Evrysdi (Risdiplam), Spinraza (Nusinersen) and Zolgensma (Onasemnogene aboparvovec).

Until recently, these were not available in India. They have been available in the country for the past two years as part of humanitarian aid programs.

  • Nusinersen (Spinraza) is a Biogen disease modifying treatment for all types of SMA. It was the first treatment approved by the U.S. FDA in December 2016. It is an antisense oligonucleotide that allows the body to produce a more functional SMN protein from the SMN2 gene. Information clinical studies showed that it is a well-tolerated drug that significantly improves motor skills after three months of starting treatment. It is given intrathecally (CSF status in the spinal canal) with four loading doses every two weeks, followed by four monthly lifetime maintenance doses.
  • The U.S. FDA has admitted Zolgensma (Onasemnogene abeparvovec) in May 2019 for the treatment of SMA. It is an adenogen-associated viral vector-based gene therapy for the treatment of SMA patients less than two years of age with SMA with biallelic mutations in the survival motor neuron 1 (SMN1) gene. The drug was also approved by the European Medicines Agency (EMA) in March 2020. Studies have shown promising results. The dosage determined from the patient’s body weight given as a single dose by intravenous infusion over one hour.
  • Evrysdi (Risdiplam) received USFDA approval in August 2020 for children two months of age or older. Roche launched it in India in July 2021. With its launch, a huge unmet need has been met for the entire SMA community, including nurses and physicians. Evrysdi (Risdiplam) is a splicing modifier of SMA survival motor neuron-2 (SMN2) and is an oral (oral or gavage) fluid. Evrysdi is designed handles SMA by increasing and maintaining functional levels of SMN protein throughout the central nervous system and peripheral tissues through daily dosing. The dose is determined patient body weight. This compound has four major studies underway worldwide – FIREFISH, SUNFISH, JEWELFISH, and RAINBOWFISH. Its safety profile is also well established.

The cost of all these drugs is unreasonable. All these drugs except Evrysdi (Risdiplam) are awaiting DCGI approval in India.

The debate on SMA in our country has been limited to the challenges of unreasonable pricing, the availability of such drug treatments, and affordability. It is important that we also focus psychosocial effect disease and remember that a multidisciplinary approach is a pillar for better disease management.

Access to the right information from experts is crucial to make the path to diagnosis and treatment easier. However, it is essential that patients and their caregivers consult with a healthcare provider before starting treatment.

The author is the Faculty in charge, Center of Excellence and Advanced Research in Childhood Nervous System Developmental Disorders, Head, Department of Pediatric Neurology, Department of Pediatrics, AIIMS, New Delhi.

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