At Aster CMI Hospital, a 7-month-old weighing 6.8 kg receives one-time gene therapy following early genetic diagnosis, timely treatment and community-supported crowdfunding.
In a race against time, an infant aged 7 months and 23 days received gene replacement therapy for Spinal Muscular Atrophy (SMA) at Aster CMI Hospital, Bengaluru. Weighing 6.8 kg at the time of treatment, the infant received a one-time gene therapy designed to address the underlying genetic cause of SMA.
What sets this case apart is speed at every step. The condition was suspected and diagnosed very early through expert clinical assessment and appropriate genetic testing. Disease-modifying treatment was started without delay, and the hospital team worked swiftly to procure the gene therapy so that it could be administered as early as possible. Just as remarkable was the response of the public: people from all walks of life came together through crowdfunding to make the treatment possible.
According to Dr. Prabhudev M Hiremath, Pediatric Neurologist, Spinal Muscular Atrophy (SMA) is a rare genetic disorder that affects motor neurons and the nerve cells that control muscle movement. It is most commonly caused by abnormalities in the SMN1 gene, resulting in insufficient levels of survival motor neuron (SMN) protein, which is essential for motor-neuron survival. As motor neurons are progressively affected, babies can develop muscle weakness and may have difficulty achieving milestones such as holding their head up, sitting and moving independently. In severe cases, SMA can also affect swallowing and breathing, making early diagnosis and timely treatment especially important.
Because SMA can cause progressive and irreversible loss of motor neurons, early treatment is important to preserve remaining motor-neuron function and support motor development. After genetic testing confirmed the diagnosis, the multidisciplinary team at Aster CMI Hospital acted promptly. The infant was started on risdiplam, a disease-modifying therapy, along with comprehensive supportive care while gene therapy was being planned.
The child subsequently received onasemnogene abeparvovec, a gene replacement therapy designed to deliver a functional copy of the SMN1 gene, enabling cells to produce functional SMN protein. The treatment involved detailed pre-treatment evaluation, weight-based dosing and close multidisciplinary monitoring during and after administration. The aim was to address the underlying genetic cause of SMA while preserving as much motor-neuron function as possible at this critical stage of development. For the family, the diagnosis was only the first challenge. The cost of gene replacement therapy, one of the most expensive medicines in the world, was far beyond their reach. The overall cost of the child’s treatment, including the medication, hospital charges and follow-up care, was approximately ₹10 crore, and the entire amount was raised through crowdfunding. What followed was an extraordinary outpouring of kindness, as people from across communities came forward to support the child’s treatment.
People with no personal connection to the family came forward to contribute, turning one child’s treatment into a shared mission. For the parents, the support brought not only financial relief but also the reassurance that they were not facing this battle alone.
Prof. (Dr.) N. Karthik Nagesh, Program Director – Pediatric Centers of Excellence, Aster Hospitals, Karnataka and Lead Neonatologist, said, “This was truly a race against time. Early clinical suspicion and appropriate genetic testing allowed us to start risdiplam and supportive care without delay, while our team worked swiftly to make gene therapy available. Administering treatment early offers the best opportunity to preserve motor-neuron function and support future motor development. The support and compassion of the community played a vital role in making this possible, demonstrating what can be achieved when medical expertise and collective empathy come together”.
Dr. Prabhudev M Hiremath, Pediatric Neurologist, Aster CMI Hospital, said, “Spinal Muscular Atrophy is a progressive condition in which timely intervention is essential to preserve motor-neuron function. Disease-modifying therapies have significantly changed the treatment landscape for children with SMA. In this infant, diagnosis at just five weeks of age allowed us to initiate risdiplam early, helping to support preservation of viable motor-neuron function while the child was being assessed and prepared for gene replacement therapy. The subsequent administration of gene replacement therapy at an early age was an important step in the child’s treatment journey, as earlier treatment is generally associated with better motor outcomes.”
Dr. Parimala V Thirumalesh, Lead Sr. Consultant – Neonatology & Paediatrics, Aster CMI Hospital, said, “For parents, a diagnosis of Spinal Muscular Atrophy (SMA) in infancy can be overwhelming. Alongside treatment, children with SMA require close monitoring, coordinated paediatric care and continued support at every stage. In this case, the baby was diagnosed at just five weeks of age, allowing the medical team to assess the condition early and initiate timely treatment. Early diagnosis, careful evaluation and close monitoring played an important role in the child’s treatment journey and provide the best opportunity to support improved outcomes and quality of life”.
The case reflects the changing treatment landscape for SMA and other genetic disorders in India, where earlier genetic diagnosis and the availability of disease-modifying therapies are improving treatment opportunities for affected children. For this family, its meaning goes far beyond medicine: it is a new beginning and a chance to look forward to their child’s growth, development and milestones, supported by a dedicated medical team and a community that stood by them when they needed it most.