DIAGALS: Relation Between TDP-43 et Nrf-2 in ALS: a Track to Improve Diagnosis and Prognosis of the Disease: Prospective, Bicentric, Non-randomized, Open-label Study
试验速览
- 阶段
- 不适用
- 状态
- 尚未招募
- 入组人数
- 60
- 主要终点
- Presence of TDP-43 aggregates in PBMC
研究概览
简要总结
In response to oxidative stress, cells activate the Nrf-2 pathway, which induces translation of its target genes and corresponding proteins involved in the antioxidant response. This explains the interest in the Nrf-2 pathway in the pathophysiology of Amyotrophic lateral sclerosis (ALS), supported by the results of several studies and the modulatory effect of TDP-43 on the Nrf-2 pathway. Since both TDP-43 and Nrf-2 proteins are present in the peripheral blood mononuclear cells (PBMC) of ALS patients and may be correlated with disease progression, the investigators wish to explore their relationship and their application in the clinic as potential blood biomarkers for ALS.
研究设计
- 研究类型
- Interventional
- 分配方式
- Non Randomized
- 干预模型
- Parallel
- 主要目的
- Diagnostic
- 盲法
- None
入排标准
- 年龄范围
- 18 Years 至 100 Years（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Men and women ≥ 18 years old
- •Person affiliated to a French social security scheme or equivalent
- •ALS diagnosed according to El Escorial criteria
- •Diagnosis of ALS < 6 months
- •Onset of symptoms < 2 years
- •Signed informed consent
- •Non-inclusion criteria :
- •Pregnant or breast-feeding
- •Treatment with oral or injectable anticoagulants, antiplatelet agents (EXCEPT aspirin at the maximum authorized dosage of 160 mg per day)
- •Unbalanced diabetes
- •Long-term corticosteroid therapy
- •Persons deprived of their liberty by judicial or administrative decision; Persons under legal protection: guardianship or curators
- •Genetic mutations associated with ALS
- •Control group :
- •Inclusion criteria:
- •Male or female volunteer aged 18 or over
- •Person affiliated to a French social security scheme or equivalent
- •Signed informed consent
- •Non-inclusion criteria :
- •Pregnant or breast-feeding women
- •Treatment with oral or injectable anticoagulants, antiplatelet agents (except aspirin at the maximum authorized dosage of 160 mg per day)
- •Unbalanced diabetes
- •Long-term corticosteroid therapy
- •Neurological diseases
- •Patient under legal protection (safeguard of justice, curators and guardianship), or in a situation of deprivation of liberty
- •Genetic mutations associated with ALS
排除标准
- 未提供
结局指标
主要结局
Presence of TDP-43 aggregates in PBMC
时间窗: Evolution between baseline and 6 month
Peripheral blood samples from ALS patients and controls will be collected at inclusion and at follow-up visits for patients. PBMC isolation and monocyte/lymphocyte enrichment will be performed using a Percoll gradient or magnetic bead separation.
PBMC accompanied by a protein expression profile under Nrf-2 control
时间窗: Evolution between baseline and 6 month
From blood samples, RNA will be extracted from PBMCs and expression of Nrf-2 target genes will be analyzed by flow cytometry.
次要结局
- Provide a method for identifying TDP-43 in PBMC bly flow cytometry.(At 6 month)