REVIEW article
Front. Pediatr.
Sec. Pediatric Nephrology
Volume 13 - 2025 | doi: 10.3389/fped.2025.1601409
This article is part of the Research TopicCystinosis Symposium: A Rare Disease Model for Comprehensive CareView all articles
Emerging therapeutic strategies for cystinosis
Provisionally accepted
- 1McGill University, Montreal, Canada
- 2McGill University Health Centre, Montreal, Quebec, Canada
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In 1977, Crawhall, Thoene and Schneider discovered that the pathologic accumulation of cystine in cells from cystinosis patients could be reversed by cysteamine treatment --thereby bypassing the mutant lysosomal cystine transporter, known as Cystinosin, encoded by the CTNS gene [1]. They showed that the therapeutic mechanism involves chemical reduction of intralysosomal cystine to yield small mixed disulfides that exit the lysosome via an alternative amino acid transporter (PQLC2). In 1987, a multinational clinical trial in 93 cystinosis patients showed that oral cysteamine could reduce leukocyte cystine levels by about 85% and slowed progressive renal insufficiency, if started early in life [2]. Subsequent studies confirmed that oral cysteamine slows deterioration of the kidneys and other organs by 5-10 years. This drug has served as the mainstay of cystinosis therapy for the last 40 years.
Keywords: Cystinosis, therapeutic strategies, mRNA, Pro-drug, Gene Therapy, Flavinoids
Received: 27 Mar 2025; Accepted: 29 Apr 2025.
Copyright: © 2025 Goodyer and Torban. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Paul Rowland Goodyer, McGill University, Montreal, Canada
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