Nephropathic cystinosis is a lysosomal storage disorder with late‐onset systemic complications, such as myopathy and dysphagia. Currently employed outcome measures lack sensitivity and responsiveness for dysphagia and myopathy, a limitation to clinical trial readiness.

中文翻译：

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肾病性胱氨酸病的远端肌病和吞咽困难的临床试验准备研究。

肾病性胱氨酸病是一种溶酶体贮积病，具有迟发性全身并发症，如肌病和吞咽困难。当前采用的结果指标缺乏对吞咽困难和肌病的敏感性和反应性，这限制了临床试验的准备。