Four drugs for rare diseases approved under the Production Linked Incentive (PLI) scheme are expected to hit the Indian market this year, said Dr Vinod Paul, Member (Health), NITI Aayog. These include Sapropterin for phenylketonuria, Carglumic acid for hyperammonemia, Ivacaftor for cystic fibrosis, and Miglustat for Gaucher’s disease. The announcement comes alongside efforts to reduce costs and improve accessibility of rare disease treatments, building on government initiatives and collaboration with the pharma industry. Experts highlighted the potential of enzyme- and gene-based therapies to address other rare diseases in the near future.

Key highlights

Existing rare disease treatments under PLI scheme

• Six drugs, including syrup hydroxyurea for sickle cell disease, are already available.

• Government interventions have drastically reduced prices for example:

  • Nitisinone for tyrosinemia type 1: ₹2.2 crore → ₹3.7 lakh.

  • Eliglustat for Gaucher’s disease: ₹3.4 crore → ₹12 lakh.

  • Trientine for Wilson’s disease: ₹3.2 crore → ₹3.5 lakh.

  • Cannabidiol for Lennox-Gastaut syndrome: ₹34 lakh → ₹3 lakh.

Challenges in distribution and accessibility

• Rare disease drugs cannot be supplied via routine pharmacies due to limited demand.

• Options include distribution through Centres of Excellence (CoEs), direct supply by manufacturers, or select Jan Aushadhi Kendras at district headquarters.

Future therapies and innovations

• Cell and gene therapies, including CAR-T cell treatments for B-cell lymphomas and leukemia, show potential for sickle cell disease and other conditions.

• Start-ups and research groups are actively exploring enzyme- and gene-based treatments.

• Authorities are considering a special regulatory pathway for rare disease drugs to ensure faster access.

Policy and financial support

• PRIP scheme being tweaked to strengthen R&D and innovation for rare diseases.

• Emphasis on patient assistance programs and innovative funding models, including CSR contributions, outcome-based pricing, and national funds.

• Inclusion of all identified rare diseases under the National Rare Disease Programme (NRDP) is encouraged.

The availability of four new rare disease drugs this year represents a significant milestone in India’s efforts to improve access and affordability for patients with rare conditions. Combined with reduced prices for existing therapies and ongoing research in enzyme and gene therapies, these developments offer hope for inclusive and equitable healthcare. Continued policy support, innovative financing, and strengthened distribution channels will be crucial for reaching patients across the country.