CTRI/2013/10/004088招募中未知
Applicability of the International Cooperative Ataxia Rating Scale (ICARS) in younger patients and development of global rating instruments for patients with Ataxia Telangiectasia (AT)
试验速览
- 阶段
- 未知
- 状态
- 招募中
- 发起方
- Erydel SPA
- 入组人数
- 80
研究概览
简要总结
暂无简介。
研究设计
- 研究类型
- Observational
入排标准
入选标准
- •1.Patients aged 6-18 years with diagnosed with ataxia, preferably AT will be included. The diagnosis of AT will be made based on the criteria: typical clinical picture plus one of the following: 1. a proven mutation in the ATM gene 2. Deficient ATM protein proven by Western blotting 3. Elevated α-fetoprotein, cerebellar atrophy on MRI and immune deficiency/ chromosomal breakage/ T- cell lymphoreticular malignancy.
- •2.Children aged 6-18 years with suspected AT (fulfilling partially the above criteria will be included)
- •3.Children aged 6-18 years with AT like disease, with or without proven mutation in the MRE11 gene will be included
- •4.Children aged 6-18 years of age with ataxia of other known or unknown etiologies might be included, but their total number should not exceed 20% of the cohort in each site
排除标准
- 未提供
研究者
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