Diagnostic Performance of Serum Neurofilaments in the Differential Diagnosis of Amyotrophic Lateral Sclerosis
试验速览
- 阶段
- 不适用
- 状态
- 尚未招募
- 入组人数
- 138
- 主要终点
- Evaluate the diagnostic performance of blood NfL levels for the diagnosis of ALS
研究概览
简要总结
Amyotrophic lateral sclerosis (ALS) is a serious neurodegenerative disease, often difficult to diagnose due to symptoms similar to other neurological pathologies. Diagnosis can take up to 14 months, although the rapid progression of the disease requires early detection. At present, there is no validated biomarker to aid diagnosis. Serum neurofilaments light chain (NfL), markers of neuronal degeneration, show great potential to help diagnose ALS early and assess disease severity. Recent research has shown that measurement of NfL in the blood can differentiate ALS from other neurological disorders, and new technologies are increasingly making it possible to perform these tests clinically.
The study hypothesis is that NfL blood levels, measured using clinical analyzers, could improve early ALS diagnosis, optimize patient recruitment for therapeutic trials and accelerate the assessment of treatment efficacy.
The primary objective is to evaluate the sensitivity and specificity of serum NfL for the diagnosis and differential diagnosis of amyotrophic lateral sclerosis (ALS) in newly recruited patients referred to the ALS Reference Center at Montpellier University Hospital. The diagnosis is established according to the revised El Escorial diagnostic criteria (see Appendix). This diagnosis is determined independently of the serum NfL concentration.
详细描述
Amyotrophic lateral sclerosis (ALS) is one of the most severe neurodegenerative diseases. It is characterized by the progressive degeneration of upper and lower motor neurons, leading to progressive paralysis and ultimately death from respiratory failure, with a median survival ranging from 30 to 36 months following symptom onset. To date, no curative treatment is available, and the exact etiology of ALS remains largely unknown, except for the familial forms, which account for approximately 10% of cases.
Establishing an early diagnosis is essential to optimize patient management and reduce diagnostic delay, which is currently estimated at an average of 12 to 14 months. The diagnostic workup includes clinical examination, electroneuromyography, and additional complementary investigations. However, this diagnostic pathway remains highly variable among patients and may require several years before a definitive diagnosis is reached, as evidence of both upper and lower motor neuron involvement is present in only approximately 50% of patients at the initial consultation.
Furthermore, reliable prognostic assessment is not currently possible during the early stages of the disease, even when the diagnosis has been established. Improving prognostic evaluation therefore represents a major clinical challenge to provide appropriate information to patients and their families.
To date, no validated biomarker is available to assist clinicians in the rapid differential diagnosis of ALS or to accurately predict disease severity at an early stage.
Neurofilaments (Nf), which are major structural components of the neuronal cytoskeleton, are released into the cerebrospinal fluid (CSF) and subsequently into the bloodstream during neurodegenerative processes, including ALS. The diagnostic value of neurofilament light chain (NfL) measurements in CSF for the differential diagnosis of ALS has already been demonstrated in various clinical settings, including prospective studies.
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
- •Be at least 18 years of age
- •Be able to undergo blood sampling (however, blood sampling is part of the standard examination and will not be performed exclusively for this study).
- •Patients with suspected ALS
排除标准
- •• Patients with recent stroke
- •Pregnant or breast-feeding women
- •Patient deprived of liberty by judicial or administrative decision, or hospitalization under duress
- •Adult protected by law (guardianship, curatorship)
- •Patient unable to understand and read information and consent forms in French
- •Person participating in another research study with an exclusion period still in progress.
- •Failure to obtain written informed consent after a period of reflection
- •Not affiliated to a social security scheme or beneficiary of such a scheme
- •Person unable to give consent
研究组 & 干预措施
Patients Suspected of ALS
This group of patients includes those with a suspected diagnosis of ALS and referred to the CHU Montpellier reference center. The study focuses on measuring serum levels of neurofilament light (NfL), a biomarker of neuronal damage, to assess its ability to diagnose ALS and predict disease progression, survival and timing of initiation of non-invasive ventilation (NIV).
干预措施: Serum Neurofilament Serum NfL Measurement (Diagnostic Test)
结局指标
主要结局
Evaluate the diagnostic performance of blood NfL levels for the diagnosis of ALS
时间窗: From baseline (Visit 0) up to 12 months
Evaluate the diagnostic performance of blood NfL levels for the diagnosis of ALS. Evaluation of the diagnostic performance of NfL blood levels (pg/mL) on samples taken during the patient inclusion visit. The final diagnosis will be established independently of the serum NfL levels at inclusion. The ALS diagnosis will be made according to the revised El Escorial criteria, which distinguish between definite, probable, clinically probable with paraclinical support, or possible ALS diagnoses.
次要结局
- Functional decline(From enrollment to the end of follow-up, at least every 3 months during routine clinical care.)
- Respiratory function(From enrollment to the end of follow-up, at least every 3 months during routine clinical care.)
- Initiation of non-invasive ventilation(From enrollment to the end of follow-up, at least every 3 months during routine clinical care.)
- Overall survival(From enrollment to the end of follow-up, at least every 3 months during routine clinical care.)