Lysosomal Storage Disorders (LSDs)

In a major step toward advancing rare disease research, scientists from 28 medical and research institutions across six States and two Union Territories have established India’s first government-supported national biobank dedicated to Lysosomal Storage Disorders (LSDs) — a group of rare inherited metabolic conditions.

The initiative integrates biological samples from 530 patients across 15 States, along with detailed clinical, biochemical and genetic data. The biobank aims to address the long-standing absence of a centralised clinical and genomic registry for LSDs in India.

The project is led by the Foundation for Research in Genetics and Endocrinology (FRIGE) at the Institute of Human Genetics, Ahmedabad, Gujarat, and is funded by the Department of Biotechnology (DBT), Government of India.

About Lysosomal Storage Disorders

Lysosomal Storage Disorders comprise a diverse group of over 70 rare inherited metabolic diseases. These conditions arise due to the deficiency of specific enzymes or enzyme activators required to break down fats, sugars and other complex molecules within cells.

In the absence of these enzymes, toxic substances accumulate inside the body’s cells, leading to progressive and often life-threatening complications. LSDs present significant diagnostic and therapeutic challenges, particularly in genetically diverse and resource-limited settings like India.

Treatment Challenges

Most LSDs currently have no definitive treatment. Even where therapies exist, such as enzyme replacement therapy, costs can exceed ₹1 crore per patient per year, making access extremely limited.

It is estimated that over 12,000 patients in India are living with Lysosomal Storage Disorders.

The newly created biobank includes samples related to conditions such as:

• Mucopolysaccharidosis Type II (MPS II) or Hunter Syndrome
• MPS IVA (Morquio A syndrome)
• Fabry disease

Source: IE