Parents of Niemann-Pick Disease Afflicted Children Seek Government Support

• 21 Oct 2023

Recently, parents of children grappling with Niemann-Pick disease, a rare genetic disorder impacting the body's ability to metabolize cholesterol and fats, appealed to the Union government for inclusion in the National Policy for Rare Diseases.

• Their plea aims to secure government financial assistance and access to the costly enzyme replacement therapy, Xenpozyme (olipudase alfa powder).

Key Points

• A Lifeline for the Afflicted: Niemann Pick India Charitable Organisation has identified 16 children, including two from Delhi, eligible for Xenpozyme treatment.
• Awareness on the Horizon: Niemann-Pick Disease Awareness Day will be observed for the first time in India, shedding light on the struggles faced by affected families.
• A Ray of Hope from Abroad: The Drug Controller General of India's subject expert committee recently authorized a pharmaceutical company to import and market Xenpozyme in India, following approval by the US FDA.
• International Recognition: Xenpozyme has been granted 'orphan drug' status in the US, Australia, Switzerland, Japan, and Malaysia.
• The Challenge of Rare Diseases: While India recognizes around 500 rare diseases, approved DCGI treatments are currently accessible for only a select few, including Gaucher disease, Pompe disease, MPS I, and Fabry disease.
• Unraveling Niemann-Pick Disease: Experts elucidate that Niemann-Pick disease encompasses various types, caused by mutations in specific genes responsible for metabolizing body fats.
• Each type varies in severity and onset age, with Type A being the most acute and often presenting in infancy or early childhood.
• Type 2 is less severe and manifests in childhood or adolescence, while Type 3 is a rare form typically appearing in adolescence or adulthood.