A phase III clinical trial of PXT3003 in Chinese patients with Charcot-Marie-Tooth disease type 1A

Charcot-Marie-Tooth disease type 1A (CMT1A) is the most common inherited peripheral neuropathy and currently lacks disease-modifying therapy. PXT3003, a low-dose oral combination targeting PMP22 overexpression, has shown efficacy in two trials, while one recent confirmatory trial failed to meet its primary efficacy endpoints. In this trial, eligible participants aged 16 to 65 years with genetically confirmed mild-to-moderate CMT1A were randomly assigned to receive oral PXT3003 or placebo twice daily for 15 months. The primary endpoint was the change in the overall neuropathy limitations scale (ONLS) total score from baseline to month 15. At month 15, mean ONLS change from baseline was −0.268 (SD: 0.82) in the PXT3003 group versus 0.013 (SD: 0.65) in the placebo group, with a between-group difference of −0.249 (95% confidence interval [CI]: −0.467 to −0.030; p = 0.0257). Significant improvements were observed in the ONLS leg subscore and ankle-dorsiflexion strength. These findings support PXT3003 as a promising therapeutic option for alleviating limb symptoms in patients with CMT1A.

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Publication Details

Journal
iScience
Published
2026-08-27
DOI
https://doi.org/10.1016/j.isci.2026.117284
Primary Topic
Hereditary Neurological Disorders
Type
article
Field-Weighted Citation Impact
0.00

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article

A phase III clinical trial of PXT3003 in Chinese patients with Charcot-Marie-Tooth disease type 1A

Wanqian Cao, Baoyu Yuan, Jiaoting Jin, Yun Xu et al.
iScience
Hereditary Neurological Disorders
article

A phase III clinical trial of PXT3003 in Chinese patients with Charcot-Marie-Tooth disease type 1A

Wanqian Cao, Baoyu Yuan, Jiaoting Jin, Yun Xu, Zhi‐Ying Wu, Xiaoli Yao, Hongli Li, Yaling Liu, Mingming Ma, Haishan Jiang, Wei Ling, Runxiu Zhu, Yuan Sun, Xuefan Yu, Jun Liu, Ruxu Zhang, Yuming Xu, Ning Wang, Zuneng Lu, Yiming Liu, Qi Fang, Chen Sun, Xiaoxuan Liu, Jianglong Tu, Shan Wu, Liying Yuan, Dongsheng Fan, Yuwei Da, Jingzheng Hao, Di Zhong
article en

Abstract

Charcot-Marie-Tooth disease type 1A (CMT1A) is the most common inherited peripheral neuropathy and currently lacks disease-modifying therapy. PXT3003, a low-dose oral combination targeting PMP22 overexpression, has shown efficacy in two trials, while one recent confirmatory trial failed to meet its primary efficacy endpoints. In this trial, eligible participants aged 16 to 65 years with genetically confirmed mild-to-moderate CMT1A were randomly assigned to receive oral PXT3003 or placebo twice daily for 15 months. The primary endpoint was the change in the overall neuropathy limitations scale (ONLS) total score from baseline to month 15. At month 15, mean ONLS change from baseline was −0.268 (SD: 0.82) in the PXT3003 group versus 0.013 (SD: 0.65) in the placebo group, with a between-group difference of −0.249 (95% confidence interval [CI]: −0.467 to −0.030; p = 0.0257). Significant improvements were observed in the ONLS leg subscore and ankle-dorsiflexion strength. These findings support PXT3003 as a promising therapeutic option for alleviating limb symptoms in patients with CMT1A.

iScienceVol. 29(9)
Hebei Medical University (CN), Fujian Medical University (CN), Central South University (CN), Nanchang University (CN), Guiyang Medical University (CN), Harbin Medical University (CN), Sun Yat-sen University (CN), Capital Medical University (CN), Jilin University (CN), Anhui Medical University (CN), Peking University (CN), National Health and Family Planning Commission (CN), Ruijin Hospital (CN), Wuhan University (CN), Soochow University (CN), Second Hospital of Hebei Medical University (CN), Nanfang Hospital (CN), Tianjin Institute of Pharmaceutical Research (China) (CN), Zhongda Hospital Southeast University (CN), Second Affiliated Hospital of Nanchang University (CN), Affiliated Hospital of Guizhou Medical University (CN), Nanjing Drum Tower Hospital (CN), First Affiliated Hospital of Fujian Medical University (CN), First Affiliated Hospital of Xi'an Jiaotong University (CN), Inner Mongolia People's Hospital (CN), First Hospital of Jilin University (CN), The First Affiliated Hospital, Sun Yat-sen University (CN), Henan Provincial People's Hospital (CN), First Affiliated Hospital of Anhui Medical University (CN), Renmin Hospital of Wuhan University (CN), First Hospital of China Medical University (CN), Peking University Third Hospital (CN), First Affiliated Hospital of Soochow University (CN), First Affiliated Hospital of Harbin Medical University (CN), First Affiliated Hospital of Zhengzhou University (CN), Third Xiangya Hospital (CN), Second Affiliated Hospital of Zhejiang University (CN), Qilu Hospital of Shandong University (CN), Southern Medical University (CN), China Medical University (CN)
Foundation for Innovative Research Groups of the National Natural Science Foundation of China
Openalex Percentile: Top 15%
Hereditary Neurological Disorders
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