AIIMS Delhi hosts Niemann-Pick Day 2024 to create awareness on the rare disease that mostly affects children

Every year, October 19 is observed as Niemann-Pick Day to create awareness on the rare disease that compromises the body's ability to metabolize fat due to which the cells die prematurely affecting the functioning of the nerves, the brain and organs.

Niemann-Pick Disease is one of the 7,000 genetic rare diseases that predominantly affects young children globally.

The Division of Genetics, Department of Paediatrics, AIIMS New Delhi, in collaboration with the Society for Indian Academy of Medical Genetics (IAMG), Indian Society for Inborn Errors in Metabolism (ISiEM), & NiemannPick India Charitable Trust (NPICT) hosted the Niemann-Pick Day 2024. "The event focused on raising awareness about the advances in diagnosis and treatment for ASMD in India, while also highlighting the pressing need for its inclusion in the National Policy for Rare Diseases 2021 (NPRD 2021)," AIIMS said in an official statement.

The symptoms of Neimann Pick disease vary depending on the type, but they generally appear in early childhood.

In Type A, symptoms often include an enlarged liver and spleen (hepatosplenomegaly), difficulty feeding, developmental delays, and loss of motor skills. Infants may also experience frequent lung infections and failure to thrive. This type is severe and often fatal by early childhood.

Type B tends to have a later onset and is less severe. Symptoms include an enlarged liver and spleen, respiratory problems, and issues with blood clotting due to low platelet count. Cognitive function is usually normal, but physical difficulties can worsen over time.

In Type C, neurological symptoms predominate. These may include difficulties with balance, coordination (ataxia), speech, and swallowing, along with seizures and progressive loss of cognitive abilities. Eye movement problems (vertical gaze palsy) are a hallmark of Type C.
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"This is a momentous occasion where all the stakeholders came together. The advancements in treatment, particularly Enzyme Replacement Therapy (ERT) for ASMD (Type A/B) give us hope that these children can lead better lives,” said Dr. Neerja Gupta, Additional Prof Genetics Division & Dept of Paediatrics, AIIMS, New Delhi.

"For families affected by Niemann-Pick Disease, the struggle is not just medical but deeply personal and emotional. We hope that by sharing our stories and the progress made in treatment, policymakers will recognize the urgent need to mitigate the hardships faced by the NPD community enabling them access to affordable and effective therapies," said Navintara Kamath, Co-founder of Niemann-Pick India Charitable Trust.