A DOUBLE-MASKED CONTROLLED RANDOMIZED CLINICAL TRIAL OF TOPICAL CYSTEAMINE

肾病性胱氨酸病是一种常染色体隐性遗传病， 一种非蛋白胱氨酸在体内积累的胆积病 由于溶酶体胱氨酸转运缺陷导致的细胞溶酶体。 眼部表现包括眼恐怖症晶体沉积， 角膜、结膜、虹膜和视网膜色素脱失。 全身并发症包括范可尼综合征和肾功能衰竭。 失败 八年前，半胱胺，一种游离巯基， 从细胞中提取，被引入到胱氨酸患者的治疗中。 尽管患者的生长有所改善，肾功能稳定， 功能，没有明显的影响，积累 角膜结晶 最近的研究表明， 通过引入，组织培养物中的胱氨酸很容易耗尽 半胱胺，使局部眼用 半胱胺以绕过体液途径。 经过适当 动物研究来测试并发症，没有发现，我们 已经开始了一项双盲临床试验， 局部用半胱胺（0.1%）。 16例患者 远被录取。 四名患者的症状明显减轻 在半胱胺治疗的眼睛，现在正在采取滴在两个 眼睛 允许增加半胱胺眼的浓度 在人类中滴，在兔子中进行了一项研究， 浓度增加到0.5%。

Nephropathic cystinosis is an autosomal, recessively inherited storage disease in which nonprotein cystine accumulates within cellular lysosomes due to a defect in lysosomal cystine transport. Ocular manifestations include photophobia crystal deposits in cornea, conjunctiva, iris and depigmentation of the retina. Systemic complications include the Fanconi syndrome, and renal failure. Eight years ago cysteamine, a free thiol which depletes cystine from cells, was introduced in the therapy of cystinotic patients. Although patients had improved growth and stabilized renal function, there was no noticeable effect on the accumulation of corneal crystals. Recent studies showed that corneal cells in tissue culture are readily depleted of cystine by the introduction of cysteamine, making feasible the use of topical ophthalmic cysteamine to circumvent the humoral route. After appropriate animal studies to test for complications which revealed none, we have begun a double-masked clinical trial to test the efficacy of topical cysteamine (0.1%) in humans. Sixteen patients have thus far been enrolled. Four patients have shown significant decrease in the cysteamine treated eyes and are now taking drops in both eyes. To permit increasing the concentration of cysteamine eye drops in humans, a study was performed in rabbits, permitting an increase in the concentration to 0.5%.