Cystinosis is a rare disease caused by mutations in the CTNS gene that encodes for cystinosin, a protein responsible for transporting cystine out of the cell lysosome. A defect in cystinosin function is followed by cystine accumulation throughout the body, especially the eyes and kidneys.[A218721] Several preparations of cysteamine exist for the treatment of cystinosis manifestations, some in capsule form, and others in ophthalmic solution form.[L15606,L15616] In particular, cystine deposits on the eye can cause significant discomfort throughout the day and require frequent treatment with eye drops, typically every waking hour.[L15611] On August 25th 2020, the first ophthalmic solution for cystinosis requiring only 4 daily treatments was granted FDA approval.[L15606] Cysteamine eye drops are a practical and effective option for those affected by ocular cystinosis. Marketed by Recordati Rare Diseases Inc., CYSTADROPS? reduce the burden of multiple frequent medications normally administered to those with cystinosis.[L15601]
Synonyms
¦Â-MEA
2-amino-1-ethanethiol
Mercaptamine
Mercaptamina
Cysteamine
Mercaptaminum
2-aminoethanethiol
Cysteamine bitartrate
Cysteamine hydrochloride
2-amino-ethanethiol
¦Â-aminoethylthiol
MEA
beta-Mercaptoethylamine
beta-aminoethanethiol
Thioethanolamine
Brand Names
Cystagon
Procysbi
Cystaran
Cystadrops
PROCYSBI Delayed-release
Indication
The bitartrate salt of cysteamine is used for the oral treatment of nephropathic cystinosis and cystinuria in adults and children ¡Ý6 years old.[L15616] The hydrochloride salt, used in eye drop preparations, is indicated for the treatment of corneal cystine crystal accumulation in patients with cystinosis.[L15601,L15606]
Drug Info/Drug Targets: DrugBank 3.0: a comprehensive resource for 'omics' research on drugs. Knox C, Law V, Jewison
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