AIIMS Delhi Hosts Niemann-Pick Day 2024
Bringing Together Families, Clinicians, and Advocates to Address Critical Gaps in Niemann-Pick Disease Care
New Delhi : 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, a ground-breaking event that brought together families affected by Niemann-Pick Disease (NPD), leading experts, researchers, clinicians, and policymakers. For the first time in India, families impacted by this rare disease had the opportunity to unite under one roof, forging a shared path of hope and solidarity.
Niemann-Pick Disease (NPD), having 2 variants Acid Sphingomyelinase Deficiency (ASMD) and NPC is one of the 7,000 genetic rare diseases that predominantly affects young children globally. 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).
Dr. Neerja Gupta, Additional Prof Genetics Division & Dept of Paediatrics, AIIMS, New Delhi, who led a session on understanding NPD Type A/B, Type C emphasized the importance of this event, stating, “This is a momentous occasion where all the stake holders 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.”
Navintara Kamath, Co-founder of NiemannPick India Charitable Trust, underscored the emotional and financial toll the disease takes on families. On behalf of the NPD community, she said, “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.”
The program featured highly informative and interactive sessions which covered patient stories, and a panel discussion moderated by Dr. Sunita Bijarnia, with leading experts such as Dr Madhulika Kabra, Dr. Ratna Puri, Dr. Meenakshi Bhat, Dr. Mamta Muranjan, Dr. Sheela Nampoothiri among others. Officials from the Ministry of Health were also in attendance to proactively participate in the proceedings.
As the event concluded, it became clear that a collaborative approach is vital for improving access to treatments for rare diseases like Niemann-Pick Disease in India. The gathering served as a beacon of hope for families and advocates fighting for their children’s future.