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细胞溶酶体内积聚的疾病 这是由于溶酶体胱氨酸转运的缺陷。 眼部表现 包括在角膜、结膜虹膜 视网膜色素脱失。 全身并发症包括范可尼 综合征和肾衰竭。 八年前，半胱胺，一种游离的巯基，可以从细胞中消耗胱氨酸， 被引入到胱氨酸病患者的治疗中。 虽然患者 有改善的增长和稳定的肾功能，没有明显的 影响角膜晶体的积累。 最近的研究表明， 组织培养物中的角膜细胞容易被 引入半胱胺，使局部眼用 半胱胺以绕过体液途径。 在适当的动物 研究测试并发症，没有发现，我们已经开始了一个 双盲临床试验，以测试局部半胱胺在 人类 到目前为止，已招募了5名患者，研究结果 等待进一步观察。

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 in humans. Five patients have thus far been enrolled, outcome of the study awaits further observation.