Friedreich 共济失调（Friedreich ataxia，FRDA）是一种罕见的多系统、危及生命的疾病，在欧洲、阿拉伯和印度裔人群中是最常见的早发性遗传性共济失调。近年来，在剖析 FRDA 的发病机制和自然病史方面取得了重大进展，多项临床试验也已启动。近期一项尤为显著的成果是，核因子红细胞 2 相关因子 2（NF ...

强调表型异质性超出当前遗传学解释，呼吁关注器官间交互作用研究。 遗传学与流行病学 弗里德赖希共济失调（Friedreich's ataxia, FA）是一种常染色体隐性遗传病，主要由FXN基因内含子1区GAA三核苷酸重复扩增（66-1700次）导致线粒体蛋白frataxin缺乏。

Vatiquinone’s FDA rejection is the most recent event in a swathe of disappointing turnouts for the company, as the ...

The US Food and Drug Administration (FDA) granted approval for a second treatment for metabolic dysfunction-associated ...

PTC Therapeutics has long been trying to workshop its vatiquinone into a marketable treatment for Friedreich's ataxia (FA) ...

PTC Therapeutics has not provided substantial evidence that vatiquinone is effective in treating children and adults with Friedreich’s ataxia, the FDA told the company in a complete response letter, ...

Although Friedreich ataxia is the most common hereditary ataxia in white populations—with an estimated prevalence of about 2–4 cases per 100,000 people—it remains a rare disease.

The regulatory body determined that PTC Therapeutics’ New Drug Application for vatiquinone did not provide sufficient ...

The small molecule, vatiquinone, had already flunked a Phase III trial, but the company pushed ahead with an approval bid ...

FDA rejected PTC Therapeutics' vatiquinone for Friedreich's ataxia, citing insufficient efficacy data and requiring another ...