Early Detection of Respiratory Impairments in ALS: A Novel Diagnostic Approach
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 70
- 试验地点
- 1
- 主要终点
- Diagnostic Accuracy of the Automatic Breathing Impairment Risk Score (P0.1 + Chemosensitivity) for Detecting ALS-Related Respiratory Dysfunction
研究概览
简要总结
The goal of this observational study is to develop new ways to detect early changes associated with amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease. The study will examine whether changes in breathing, magnetic resonance imaging (MRI) of the brainstem and spinal cord, and blood markers can identify early signs of ALS before major physical changes occur.
The main questions the study aims to answer are:
- Can changes in automatic breathing help identify early ALS-related changes?
- Can breathing measures distinguish people with ALS from people without ALS?
- Do people with genetic risk for ALS who show changes in breathing also have changes in the brainstem and spinal cord or higher levels of blood markers associated with nerve damage?
Participants will complete breathing and muscle function tests, an MRI scan of the brainstem and spinal cord, and blood testing. The study will include people with ALS, people with genetic risk for ALS who do not yet have symptoms, and healthy adults for comparison.
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
- 是
入选标准
- •Symptomatic participants with ALS must have an ALS Functional Rating Scale-Revised (ALSFRS-R) score of 47/48 or less at the time of recruitment.
- •Asymptomatic/presymptomatic participants must have a pathogenic C9orf72 expansion of at least 25 repeats or a similar genetic abnormality known to be associated with ALS.
- •Healthy control participants must have no clinically identifiable neurological deficits based on medical history and screening. -
排除标准
- •Any safety concern or contraindication to MRI based on MRI safety screening.
- •Healthy control participants who do not pass the neurological screening.
- •Pregnancy.
- •Metal implants above the waist, including cardiac pacemakers or brain, neck, cervical, or thoracic implants.
- •Neurocognitive impairment.
- •Inability or unwillingness to provide informed consent.
- •Younger than 18 years of age.
研究组 & 干预措施
Symptomatic Amyotrophic Lateral Sclerosis
Participants with symptomatic amyotrophic lateral sclerosis (ALS), including familial or sporadic ALS, who have clinical evidence of disease. This group will undergo study assessments to characterize respiratory function and biomarkers associated with ALS.
Asymptomatic/Presymptomatic ALS Gene Carriers
Participants who carry a genetic variant associated with amyotrophic lateral sclerosis but do not have clinical symptoms or functional deficits associated with ALS. This group will be evaluated for early or subclinical changes in respiratory function and other biomarkers associated with ALS.
Healthy Controls
Neurologically healthy participants without clinically identifiable neurological deficits who will serve as a comparison group for the study assessments.
结局指标
主要结局
Diagnostic Accuracy of the Automatic Breathing Impairment Risk Score (P0.1 + Chemosensitivity) for Detecting ALS-Related Respiratory Dysfunction
时间窗: During the single study visit
A linear prediction risk score combining airway occlusion pressure at 0.1 seconds (P0.1) and chemosensitivity will be developed to distinguish symptomatic ALS participants with respiratory dysfunction from healthy controls. Diagnostic performance of the risk score will be evaluated using the area under the receiver operating characteristic curve (ROC-AUC), and an optimal cutoff will be determined. The resulting cutoff will subsequently be used to identify subclinical respiratory impairment in asymptomatic/presymptomatic ALS gene carriers.
次要结局
- Fractional Anisotropy of the Brainstem and Cervical Spinal Cord(During the single study visit)
- Axial Diffusivity of the Brainstem and Cervical Spinal Cord(During the single study visit)
- Radial Diffusivity of the Brainstem and Cervical Spinal Cord(During the single study visit)
- Mean Diffusivity of the Brainstem and Cervical Spinal Cord(During the single study visit)
- Plasma Neurofilament Light Chain (Nf-L) Level(During the single study visit)
- Serum Neurofilament Light Chain (Nf-L) Level(During the single study visit.)
研究者
Jayakrishnan Nair
Principal Investigator
Thomas Jefferson University