Enzyme Replacement Therapy can extend life span of rare disease patients from 10 -15 years’

New Delhi : As India aims to reduce the deaths of patients suffering from rare genetic diseases, world health experts say that a new medical technology named enzyme related therapy can extend the life span of people with the disorder from 10-15 years.

While there is no formal definition for a rare 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 rarest of rare ones such as 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.

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 which earlier remained poor causing death, the doctors said.

Enzyme replacement therapy (ERT) involves intravenous (IV) infusions to correct the underlying enzyme deficiency that causes the rare disease such as Gaucher, Fabry’s and Hunter syndrome.

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.

“ERT has been a solution to the problem of people with Hunter syndrome. Several of my patients have been treated through the ERT therapy and their condition has significantly improved. While this therapy has to be given to the patients for a long time, the end results are completely in favour of the patients,” said Christina Lampe, Senior Physician at Neurology, Epileptology and Social Medicine at Germany’s University Hospital of Giessen.

Noting that ERT is the first enzyme targeted therapy to cure three rare diseases disorder, Lampe, who was in New Delhi, said the medical procedure also is less painful and less infectious.

However, she insisted anyone undergoing ERT also needs to pursue physiotherapy or other medicines that can additionally support for the progress.

According to Organisation for Rare Diseases in India (ORDI), currently, all rare diseases get diagnosed at a much later stage when treatments are not much effective.

Currently, only one in 20 Indian patients gets diagnosed with a rare disease.

In 2017, the National Policy for Treatment of Rare Diseases (NPTRD) was announced by the Indian government with a corpus of Rs 100 crore to provide financial assistance for the treatment of rare disease patients.

However, in November last year, the health ministry put on hold the policy and the corpus amount, saying the focus was currently on communicable and non-communicable diseases.

But the ERT has been approved by the Indian government and its manufacturer Japanese Pharma major Takeda has recently launched it in India.

The ERT will be available in every Indian state so that the governments make easy the treatment for the rare diseases patients.

Ari Zimran, Director of the Gaucher Clinic at Jerusalem’s Shaare Zedek Medical Centre said the ERTs have shown a better result compared to every other medication for Gaucher disease.

“In Israel we started using it in 2004 and the patients have witnessed way to progress. It acts as an booster for improvement. However the patient needs a constant monitoring over the treatment process,” he said.

A rare disease can be life-threatening or chronically debilitating condition and despite being individually rare, rare diseases are collectively common with an estimated 350 million individuals thought to be living with a rare disease worldwide.

Till date, approximately 7, 000 rare diseases have been identified with children disproportionately affected with over 50 % of rare diseases beginning in childhood.

Misdiagnosis is a common experience for many patients with rare diseases as many are so rare that a physician is unlikely to see a single case in their whole career.

Atul Mehta, Consultant Haematologist and Physician at the Royal Free Hospitals in London, said the ERTs can be a boon for the Indian patients of the rare diseases as they have a much better solution the problem now.

He said ERT is the first treatment where it uses human cells to treat the patients that prevents the formation of any anti-bodies and reaction.

“Unlike other procedures ERTs uses only the human cells to cure the rare disease which makes rules out any possibility of reaction and infection. The patients with rare diseases are special and they need an ethical treatment to have a better life and especially when there are solutions to it. The success of the ERTs have shown that a patient’s life span has increase from 10-15 years,” Mehta said.

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