Gaucher patients in India face more challenges during pandemic: Experts

October 29, 2020 0 By FM
With the lack of proper guidelines and absence of a rare disease policy, the challenges faced by the Gaucher patients in India especially during the COVID-19 pandemic becomes severe, say experts.
Gaucher disease (GD) is the most common disorder among lysosomal storage disorders (LSD) worldwide and in India. Under LSDs, India has been witnessing the prevalence of Hunter Syndrome, Gaucher Disease and Fabry Disease amongst other treatable rare diseases. However, the low disease awareness amongst patients and lack of accessibility to specialists and proper diagnostic centres make the rare disease patients even more vulnerable, the company said.

“There is an urgent need for early diagnosis, and timely intervention so that patients can lead a near-normal life. The only treatment available for Gaucher patients is enzyme replacement therapy. Therefore, we need urgent intervention by the government in the form of the reintroduction of the National Policy for Treatment of Rare Diseases,” according to Dr Ashok Gupta, Professor of Pediatrics and In-charge Rare Diseases, Superintendent J K Lon Hospital – SMS Medical College, Jaipur

In Jaipur, for example only two hospitals namely J K Lone Hospital and SMS hospital have the ability and the facility to diagnose rare diseases, he said. Gaucher disease is quite prevalent in Rajasthan but no statistical data is available till date. Meanwhile, enzyme replacement therapy is also profoundly expensive which makes it unaffordable for many patients.

In 2017, the National Policy for Treatment of Rare Diseases (NPTRD) was announced by the Government with a corpus of Rs. 100 crores, to provide financial assistance for the treatment of rare disease patients. In November 2018, it was put on hold. However, in 2019 government proposed financial support of up to ₹15 lakh for those rare diseases that require a one-time treatment.

LSDs are a group of more than 40 inherited metabolic disorders characterized by impaired lysosomal function leading to accumulation of substrates within the organelle. GD is a metabolic defect due to deficiency of an enzyme called glucocerebrosidase caused by mutations in the gene responsible for its production (GBA1/Acid-B-glucosidase gene). This results in the accumulation of the substrate (glucosylceramide) in the lysosomes of macrophages leading to a wide spectrum of manifestations.

Most people who have Gaucher disease have varying degrees of abdominal complaints, skeletal abnormalities, and blood disorder. More rarely, Gaucher disease affects the brain, which can cause abnormal eye movements, muscle rigidity, swallowing difficulties, and seizures.

There are mainly three types of GD based on clinical features, ethnicity, and natural history of the disease. The Type I GD is the most common type among GD. It does not show any neurological involvement. Type II GD/Acute Neuronopathic GD/ Infantile Cerebral GD comprises about 1 % of GD patients in the world. Type III GD is a chronic neuronopathic form and is seen in 5 % of patients overall.