Ассамский медицинский колледж провел первую в Северо-Восточной Индии терапию замещения фермента для лечения редкого заболевания

Trending AMCH administers enzyme replacement therapy to child with rare disease, 1st in NEComments AA Text Size Small Medium Large The therapy was administered by the department of paediatrics under the supervision of its head, professor Arpita Gogoi, along with Dr Dorothy Gargo and a multidisciplinary team Dibrugarh: Assam Medical College and Hospital (AMCH), Dibrugarh has achieved a landmark milestone in rare disease care by becoming the first centre in Northeast India to successfully 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 therapy was administered by the Department of Paediatrics under the leadership of Professor and Head Dr Arpita Gogoi along with Dr Dorothy Gargo and a multidisciplinary team. The treatment was carried out under AMCH’s Centre of Excellence (CoE) for Rare Diseases, established under the National Policy for Rare Diseases (NPRD), 2021 of the Union Ministry of Health and Family Welfare.Lysosomal Storage Disorders are a group of rare inherited metabolic diseases caused by genetic defects that prevent cells from properly breaking down certain complex substances. Their accumulation can progressively damage organs and tissues, with symptoms varying according to the specific disorder.Enzyme Replacement Therapy is an advanced treatment in which the deficient or missing enzyme is supplied to the patient, helping the body break down the accumulated substances and slow or prevent further disease progression. Valeglucerase Alpha is a recombinant form of the enzyme glucocerebrosidase and is used as ERT for Gaucher disease, a lysosomal storage disorder.The achievement is significant for Assam and the Northeast, where access to specialised diagnosis and treatment for rare genetic and metabolic disorders has historically been limited.AMCH Principal Dr Sanjeeb Kakati said the milestone reflected the institution’s growing capacity to provide advanced treatment closer to patients and their families.“This achievement is a significant step forward in our efforts to provide equitable and specialised healthcare for patients with rare diseases. It demonstrates that AMCH can deliver advanced therapies of national significance and gives hope to families across Assam and the Northeast,” Kakati on Saturday said.The hospital said the milestone was not merely a medical accomplishment but also represented an important step towards making specialised and potentially life-changing treatment more accessible to children affected by rare diseases.The development also highlights AMCH’s continuing efforts to strengthen diagnostic facilities, multidisciplinary care and access to advanced therapies under the national rare disease programme. You Can Also Check: Gold Rate in Guwahati | Silver Rate in Guwahati | Bank Holidays in Guwahati | Public Holidays in Guwahati | Guwahati AQI | Weather in Guwahati | Petrol Price in Guwahati | Diesel Price in Guwahati | CNG Price in Guwahati | LPG Price in Guwahati Stay updated with the latest Guwahati news. Download the TOI App. End of Article Follow Us On Social Media Videos