Impact of Sensory, Motor and Vestibular Deficit on the Postural Stability of CMT Patients
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 60
- 试验地点
- 1
- 主要终点
- Postural equilibrium
研究概览
简要总结
Charcot-Marie-Tooth (CMT), a therapeutically orphan neuromuscular disease affecting one in 2,500 people, represents a challenge to the medical and scientific communities. Physiotherapeutic-rehabilitative strategies play a crucial role in the management of CMT, particularly addressing balance impairment, a key disabling symptom. However, clinical studies in this field are limited. Our study aims to investigate the impact of strengh and somatosensory deficits on static and dynamic balance in CMT patients. The Investigators also aim to explore the involvement of the vestibular system and its correlation with postural instability. Furthermore, the Investigators seek to evaluate relationships between neurochemical biomarkers offering valuable insights for future targeted clinical studies.
详细描述
A total of 60 patients will be recruited. To ensure adequate representation of the subgroups of interest, 10 patients with CMT1A (PMP22 gene duplication) and 10 patients with CMT2, regardless of their genotype, will be included. Additionally, three control groups, each comprising 10 subjects, will be included. The first group will consist of patients with motor symptoms, including those with hereditary motor neuropathy (HMN, 10 patients) or distal myopathy (MD, 10 patients). The second group will include patients with solely sensory symptoms, genetic neuropathies, or purely sensory acquired neuropathies such as HSN and neuropathies from anti-MAG antibodies. Finally, the third group will be composed of 10 healthy subjects. Each control subject will have comparable level of disability (motor or somatosensory), age, and gender to the enrolled CMT patients.
All participants must meet the following inclusion criteria to take part in the study:
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Age 18 years or older
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Subject has documented diagnosis of one of the following diseases (except from healthy controls):
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Hereditary sensory-motor neuropathy (CMT) confirmed by genetic analysis
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Hereditary motor neuropathy (HMN) confirmed by genetic analysis
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Hereditary sensory neuropathy (HSN) confirmed by genetic analysis
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Hereditary distal myopathy (MD) confirmed by genetic analysis
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Acquired sensory neuropathy: anti-MAG antibody neuropathy confirmed by neurophysiological, clinical and serological assessment.
The presence of any one of the following exclusion criteria will lead to the exclusion of the subject:
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •CMT or HMN or sensory neuropathy or distal myopathy
排除标准
- •unable to stand
- •other neurological, psychiatric, or orthopedic disorders
- •MMSE <28
- •alcohol abuse
- •intensive rehabilitation program
结局指标
主要结局
Postural equilibrium
时间窗: 12 months
How sensory and motor deficit influence the postural equilibrium
次要结局
- Vestibular equilibrium(12 months)
研究者
Stefano Previtali
Head Neuromuscular Repair Unit
IRCCS San Raffaele