Context: Health activists and patients with spinal muscular atrophy (SMA) have demanded urgent action to reduce the cost of medicines required to treat this genetic disorder.
Relevance of the Topic: Prelims: Key facts about Spinal Muscular Atrophy; Treatment options.
About Spinal Muscular Atrophy
- Spinal muscular atrophy (SMA) refers to a group of hereditary diseases which affect motor neurons. It is caused by a mutation in a gene- survival motor neuron gene 1 (SMN1).
- Motor neurons are specialised nerve cells in the brain and spinal cord that control voluntary muscle movement.
- As the muscles cannot respond to signals from the nerves they atrophy (weaken and shrink) from inactivity.
- People with SMA experience:
- Respiratory infections, scoliosis, and joint contractures (chronic shortening of muscles and tendons).
- Severe weakness in the trunk (chest) and upper leg and arm muscles.
Types of SMA:
- Type 0: Very rare and severe type of SMA with symptoms beginning prior to birth.
- At birth, the infant has severe weakness and difficulty breathing and feeding.
- Type l (Werdnig-Hoffman disease) is the most common form of SMA. It is usually evident before 6 months of age.
- Symptoms include severe muscle weakness and trouble breathing, coughing, and swallowing.
- Type ll: first noticed between 6 and 18 months of age.
- Children can sit without support but are unable to stand or walk without help.
- Type lll (Kugelberg-Welander disease): symptoms after 18 months of age.
- Children can walk independently, but have trouble running, rising from a chair, or climbing stairs.
- Type IV: develops after 18 years of age. Symptoms include mild to moderate leg muscle weakness and other symptoms.
Treatment
- Gene therapy: Zolgensma, a one-time therapy administered to patients under two-year-old, costs around ₹16 crore in India.
- Zolgensma delivers a functional copy of the SMN gene into motor neuron cells, improving muscle movement and function in children with SMA.
- SNM-enhancing drug: Survival motor neuron gene enhancing drug like Risdiplam, costs up to ₹8 crore per patient, annually.
- Risdiplam works by increasing the concentration of SMN protein in the body.
Challenges: High cost of treatment
- The Central government has argued that the costs are beyond its financial reach and instead promoted crowdfunding and State-level interventions.
- Cost of SMA therapies range from ₹50 lakh to ₹8 crore per patient annually.
- Cost of gene therapies range between ₹9 crore and ₹30 crore per patient.
- This results in an unbudgeted national expenditure of ₹6,400 crore to ₹34,000 crore each year for the Central government.
Way Forward
- GenericRisdiplam production:
- Increased funds, international collaboration & utilising technology (CAD & AI) towards development of generic alternatives of drugs like Risdiplam.
- E.g., The research by an expert affiliated with Yale University, reveals that generic Risdiplam could be produced for just ₹3,000 per year.
- Compulsory licensing:
- Under the Indian Patent Act, 1970, the government can grant licences to Indian Pharmaceutical companies third parties to produce affordable generics.
- E.g., in 2012, India granted its first compulsory licence to Natco Pharma to produce a generic version of Sorafenib (cancer drug), which was patented by Bayer.
- A robust Policy framework for Rare Diseases:
- E.g., In 2023, the Central Government provided full exemption from basic customs duty on all drugs imported for personal use for treatment of Rare Diseases, listed under National Policy for Rare Diseases, 2021.