Enhancing access to treatment for Gaucher disease in India: The need for indigenous manufacturing

Patel, Nidhi; Pandya, Heta; Sangle, Ganesh; Choudhury, Mohua Chakraborty

doi:10.1007/s12038-024-00427-w

J Biosci

2024

DOI: 10.1007/s12038-024-00427-w

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Enhancing access to treatment for Gaucher disease in India: The need for indigenous manufacturing

Nidhi Patel,

Heta Pandya,

Ganesh Sangle

et al.

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Cited by 2 publications

References 27 publications

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Recent Therapeutic Advancements for Gaucher Disease

Pradhan,

Manna,

Pragya

et al. 2024

Advanced Therapeutics

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Gaucher Disease (GD) is a well‐known lysosomal storage disease resulting from mutations in the GBA1 gene. GD exhibits a range of clinical manifestations, each with unique symptoms and severity levels. This review explores the genetic foundations of GD, highlighting the significance of Glucocerebrosidase (GCase) deficiency, resulting in the skeletal complications associated with GD, such as osteonecrosis, fractures, and bone pain, all of which significantly negatively influence the quality of life for patients. Over 700 mutations in the GBA1 gene are found to cause variations in gene expression in GD, indicating the disease's complexity and the need for continued research. Early diagnosis and prognosis evaluation depend heavily on diagnostic approaches integrating laboratory assessments, genetic testing, and clinical symptoms. Treatment strategies like enzyme replacement therapy (ERT) and substrate reduction therapy (SRT) have advanced, but issues like high costs and invasiveness still exist. This review focuses on novel therapeutic approaches that show promise in treating GD, including gene and cell‐based therapies, pharmacological chaperone therapy (PCT), and drug delivery via nanoparticles. Finally, discussions on current clinical trials, limitations of the advanced therapies, and future scope are summarized.

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Recent Therapeutic Advancements for Gaucher Disease

Pradhan,

Manna,

Pragya

et al. 2024

Advanced Therapeutics

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Current status of research in rare genetic disorders and drug discovery in India

Bhattacharya,

Mishra

2024

J Biosci

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Enhancing access to treatment for Gaucher disease in India: The need for indigenous manufacturing

Cited by 2 publications

References 27 publications

Recent Therapeutic Advancements for Gaucher Disease

Recent Therapeutic Advancements for Gaucher Disease

Current status of research in rare genetic disorders and drug discovery in India

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