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Cystinosis: Status of research and treatment in India and the world

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Abstract

Cystinosis is an autosomally inherited rare genetic disorder in which cystine accumulates in the lysosome. The defect arises from a mutation in the lysosomal efflux pump, cystinosin (or CTNS). Despite the disease being known for more than a century, research, diagnosis, and treatment in India have been very minimal. In recent years, however, some research on cystinosis has been carried out on understanding the pathophysiology and in the development of a humanized yeast model for interrogating the CTNS protein. There has also been a greater awareness of the disease that has been facilitated by the formation of the Cystinosis Foundation of India just over a decade ago. Awareness among primary physicians is critical for early diagnosis, which in turn is critical for proper treatment. Eight different mutations have been observed in cystinosis patients in India, and the mutation spectrum seems different to what has been seen in the US and Europe. Despite these positive developments, there are immense hurdles still to be surmounted. This includes ensuring that the diagnosis is done sooner, making cysteamine more easily available, and, also for the future, to make accessible the promise of gene therapy to cystinosis patients.

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Notes

  1. Among the six patients who received the gene therapy in phase 1/2 clinical trials, was Natalie Stack, daughter of Nancy Stack and Geoffery Stack, who have been driving the Cystinosis Research Foundation for the last 20 years, some years after their daughter was diagnosed with cystinosis. It is an example to show that a private, parent-driven foundation can have resounding achievements.

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Acknowledgements

NV is a recipient of a CSIR Senior Research Fellowship. AKB acknowledges funding from the Cystinosis Research Foundation, USA, for part of the work carried out in his lab during 2014–2017 and currently from IISER Mohali and CEFIPRA (Project No. 6503–5).

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Authors and Affiliations

  1. Department of Biological Sciences, Indian Institute of Science Education and Research Mohali, Punjab, India

    Nikita Vashist & Anand K Bachhawat

  2. Clinical and Translational Sciences Department, Ferring Pharmaceuticals A/S, Amager Strandvej 405, 2770, Kastrup, Denmark

    Anup Arunrao Deshpande

  3. MIOT Institute of Nephrology, MIOT Hospitals, Chennai, India

    Armugham Kanakaraj & Rajan Ravichandran

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  1. Nikita Vashist
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  2. Anup Arunrao Deshpande
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  3. Armugham Kanakaraj
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  5. Anand K Bachhawat
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Correspondence to Anand K Bachhawat.

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Corresponding editor: Alok Bhattacharya

This article is part of the Topical Collection: The Rare Genetic Disease Research Landscape in India.

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Vashist, N., Deshpande, A.A., Kanakaraj, A. et al. Cystinosis: Status of research and treatment in India and the world. J Biosci 48, 50 (2023). https://doi.org/10.1007/s12038-023-00384-w

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