SMA, rare disease treatment add to Kerala health model success story

Yet another Kerala model is now being scripted in healthcare in the treatment of rare diseases, including spinal muscular atrophy (SMA). 

While the rest of the states are still limiting themselves around Centres of Excellence (CoEs) as part of the central scheme for SMAs, Kerala is setting a national benchmark through offering free life-saving drug therapies, multidisciplinary care, including genetics, physiotherapy, and respiratory support, and psychological support for affected families through a hub-and-spoke model. 

SMA is a rare, inherited genetic disease that affects the motor neurons in the spinal cord, causing progressive muscle weakness and wasting. 

The state is taking a giant leap in its efforts, taking it to global standards by roping in all medical colleges, district hospitals, and even the private sector in some areas as part of the ecosystem. It is also planning to increase the age of beneficiaries from 12 to 18 years. Gene therapy support is also under consideration, as it was approved recently. 

For SMA treatment, three drugs are primarily used — Zolgensma, Spinraza, and Risdiplam. As per media reports, Risdiplam is the cheapest among the three, as the other two are priced exorbitantly high and not approved for sale in India. Hence, the treatment of SMA is not viable for a common patient in the country. 

That is where the Kerala government’s initiative on rare diseases, especially SMAs, is becoming a model for the country. “We are proud of being the first Indian state to set up a sustainable and innovative model of care for patients with rare conditions.  Our holistic, multi-disciplinary approach has ensured that the Kerala United Against Rare Diseases (KARE) programme extends beyond free drug support, encompassing awareness, early detection, and comprehensive care, including complex surgeries and supportive rehabilitation,” said state health minister Veena George. 

The state has created a registry of around 208 patients receiving care through regional centres and district hospitals, including physiotherapy, respiratory support, and psychological support for affected families. Out of them, around 108 patients are being given free medicines, the expense of which is running in lakhs per patient. 

In 2022, it became the first state in India to begin free distribution of drugs to children afflicted by SMA under the aegis of its KARE programme. Building on this model, KARE has been expanded to other rare conditions, including Lysosomal Storage Disorders (LSDs) such as Gaucher disease and Pompe disease, and growth hormone deficiencies in pediatric patients requiring long-term hormone therapy. 

KARE aims to detect congenital disorders at an early stage and provide expert medical care to children. The main hub is the Sree Avittam Thirunal (SAT) Hospital in Thiruvananthapuram, while patients in northern districts are taken care of at Kozhikode hospital. 

“The Kerala government has taken decisive steps to strengthen the state’s ecosystem for treating rare diseases, providing multidisciplinary care to over 130 children through a multi-disciplinary care approach, including neurology, orthopedics, pulmonology, physiotherapy, and nutrition. For the first time in the country, a hub-and-spoke model was implemented in the treatment of rare diseases,” said Rahul UR, State Nodal Officer of Child Health and Rare Diseases. 

As per estimates, rare diseases affect approximately one to six individuals per 10,000 people. In the case of SMAs, it is one in every 7,000 people, which makes it a concern in India. 

“The state has been successful in forging collaborations with patient advocacy groups like CureSMA for understanding patients’ needs, and industry partners like Roche for getting better pricing in order to make treatment accessible for more patients,” he added. 

“We have seen over 93 per cent survival rate in infantile SMA cases and clinically meaningful improvement in motor functions with Risdiplam. To drive equitable access to the treatment of rare conditions, all stakeholders, including the government, pharma industry, and patient groups, need to work together to build a sustainable access network so that the treatment reaches more patients in the country,” said Razeena K, co-founder and director, Patient Empowerment, CureSMA Foundation of India.  The Kerala model is crucial as SMA patients in India had a long wait for a viable treatment option, till the launch of CoEs. 

The state’s initiative, KARE, demonstrates how targeted funding and dedicated care through an ecosystem approach involving multiple stakeholders can make a meaningful impact.