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Triumph Over SMA: A Story of Collective Effort and Medical Breakthrough

NextEdge Admin
15 May 2024
3 min 34 sec
0
gene therapy,AAV9

A 23-month-old boy named Hridyansh, afflicted with spinal muscular atrophy (SMA), underwent groundbreaking gene therapy at J K Lon Hospital, financed through innovative means. The procedure, costing Rs 17.5 crore, was facilitated by a remarkable crowdfunding effort, spearheaded by Hridyansh’s determined parents, who garnered support from various quarters including the police department and local politicians.

Despite facing a daunting financial hurdle, the family’s relentless pursuit for funds resulted in a successful collaboration with the police force, which donated over Rs 5 crore, along with contributions from other sources. The intervention of the Centre, waiving customs duty on the imported medication, further eased the financial burden, reducing the therapy’s cost to Rs 14.5 crore.

With Rs 9 crore raised through crowdfunding, the family negotiated with the drug manufacturer to cover the remaining cost in installments. This collective effort culminated in Hridyansh receiving the crucial gene therapy, his last hope for treatment, at the critical age of 23 months.

Spinal Muscular Atrophy (SMA) is a genetic disorder characterized by the degeneration of motor neurons, leading to progressive muscle weakness and atrophy. It is caused by a deficiency in the SMN1 gene, crucial for motor neuron survival. SMA affects various aspects of daily life, including movement, breathing, and swallowing, often leading to significant disabilities and reduced life expectancy. Recent advancements in treatments like gene therapy, exemplified by Zolgensma, produced by the renowned Swiss pharmaceutical company Novartis is a groundbreaking gene therapy for spinal muscular atrophy (SMA).

Administered in a single dose, it targets the genetic root of SMA by replacing the missing or nonfunctional SMN1 gene with a functional one, ensuring proper muscle function. Utilizing adeno-associated virus 9 (AAV9) as a vector, ZOLGENSMA is safely delivered to motor neuron cells. Prior to treatment, doctors assess AAV9 antibody levels through a blood test to ensure efficacy. If levels are high, monitoring and retesting may be necessary. Consultation with a healthcare provider is crucial for personalized guidance on your child’s treatment journey.

Dr. Priyanshu Mathur, overseeing rare diseases at J K Lon Hospital, emphasized the therapy’s potential to combat SMA’s debilitating effects, marking a significant advancement in medical intervention for such conditions.