Lucknow, Oct 12 Three children diagnosed with the rare genetic disorder Gaucher disease were provided the required enzyme replacement therapy at Sanjay Gandhi Post Graduate Institute of Medical Sciences (SGPGIMS).
An official spokesperson of the institute said the treatment was facilitated under the national policy of rare disease, 2021.
Experts said Gaucher disease is a rare and debilitating genetic disorder that affected one in 40,000 live births.
The disease, like many genetic disorders, was untreatable until 2010 when enzyme replacement therapy velaglucerase was approved.
However, the extremely high cost made it impossible for this therapy to be used for Indian patients.
In the disease, a lack of enzyme to breakdown a key lipid substance (glucocerebroside) leads to its accumulation in various organs, bones and brain resulting in symptoms like anaemia, bone pain, organomegaly and growth failure.
However, under national policy of rare disease 2021, government approved free treatment for a selected group of disorders such as Gaucher disease.
“This step marks a significant leap forward for patients who could not afford the therapy,” said Dr Shubha Phadke, head of medical genetics, adding that as many as 18 children with the rare disease have benefitted from the scheme.
She added that the therapy drastically improves the quality of life of these children and reduces the progression of the disease.
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