Dibrugarh: Assam Medical College and Hospital (AMCH), Dibrugarh, has achieved a significant milestone in rare disease care by becoming the first centre in Northeast India to administer Enzyme Replacement Therapy (ERT) using Valeglucerase Alpha to a three-and-a-half-year-old child suffering from a Lysosomal Storage Disorder (LSD). The treatment was administered by the Department of Paediatrics under the leadership of Professor and Head Dr Arpita Gogoi, along with Dorothy Gargo and a multidisciplinary medical team.
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The treatment was carried out under the Centre of Excellence (CoE) for Rare Diseases at AMCH. The centre was established under the National Policy for Rare Diseases (NPRD), 2021, of the Ministry of Health and Family Welfare, Government of India. The development marks an important step towards expanding access to specialised treatment for patients suffering from rare genetic and metabolic disorders in Assam and other parts of the Northeast. Lysosomal Storage Disorders are a group of rare inherited conditions caused by deficiencies in specific enzymes, leading to the accumulation of certain substances in cells and tissues. ERT is used to replace the deficient enzyme and help manage the effects of some such disorders.
The successful administration of the therapy at AMCH is expected to enable patients from the region to access specialised care closer to home, reducing the need to travel to distant centres for treatment. The achievement also highlights the growing capacity of AMCH to provide advanced healthcare services for rare diseases and represents progress towards more timely and equitable treatment for affected children and families in the Northeast.
