Enzyme replacement therapy - A hope for RARE DISEASE patient
As India aims to reduce the premature deaths of people suffering from rare genetic diseases, health experts say that Enzyme Replacement Therapy (ERT) may extend the lifespan of such patients by 10-15 years.

While there is no formal definition for a rare genetic disease, global health bodies say it is characterised by three factors — the total number of people having the disease, its prevalence and non-availability of treatment.

India currently has over 8,000 patients with rare diseases, which includes genetic disorders like Hunter Syndrome, Gaucher Disease and Fabry’s Disease.

In such diseases, there is a deficiency of one or more of the enzymes located in the cellular organelles known as lysosomes, resulting in progressive accumulation of the deficient enzyme’s substrate.

ERT balances low levels of glucocerebrosidase (GCase) enzyme with a modified version of the enzyme. This enzyme breaks down glucocerebroside, the fatty chemical that accumulates in the body of patients with Gaucher, Hunter and Fabry’s disease.

The ERT, which has been tried and tested in various parts of the world over the last two decades, especially in Germany, Italy and Israel has shown tremendous improvement in the body features of the patients and increases their quality of life, the doctors said.

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