A DOUBLE-MASKED CONTROLLED RANDOMIZED CLINICAL TRIAL OF TOPICAL CYSTEAMINE

肾病综合征是一种隐性遗传的常染色体病。 非蛋白胱氨酸在体内积聚的储藏疾病 溶酶体半胱氨酸转运缺陷所致的细胞溶酶体。 眼部表现包括畏光晶体沉积 角膜、结膜、虹膜和视网膜色素脱失。 全身并发症包括范科尼综合征和肾脏 失败了。 八年前，半胱胺，一种能消耗半胱氨酸的游离硫醇 从细胞出发，被引入到膀胱虫病患者的治疗中。 虽然患者的生长状况有所改善，肾脏稳定了下来 功能，但对土壤中蛋白质的积累无明显影响。 角膜晶体。最近的研究表明，角膜细胞在 组织培养很容易因引进而耗尽半胱氨酸。 半胱胺，使局部眼科药物的使用成为可能 半胱胺来绕过体液路线。在适当之后 动物研究，以测试并发症，但没有发现，我们 已经开始了一项双掩蔽临床试验，以测试 人体外用半胱胺(0.1%)。16名患者有这样的症状 已经被录取了很久。有四名患者的病情明显下降 在接受半胱胺治疗的眼睛中，现在正在服用这两种药物 眼睛。允许增加半胱胺眼液的浓度 在人身上，一项在兔子身上进行的研究，允许一种 将浓度提高到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%.