A Multicenter Study for the Validation of ALS Biomarkers
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 475
- 试验地点
- 30
- 主要终点
- ALS Functional Rating Scale (ALSFRS-R)
研究概览
简要总结
The purpose of this study is to collect 650 blood and 300 cerebrospinal fluid (CSF) samples from people with amyotrophic lateral sclerosis (ALS), pure lower or upper motor neuron diseases, as well as other neurodegenerative diseases and from people with no neurological disorder. Through comparison of these samples, the researchers hope to learn more about the underlying cause of ALS, as well as find unique biological markers, which could be used to diagnose ALS and monitor disease progression.
Additionally, up to 600 blood samples will be collected for a sub-study for DNA analysis. Studying components of the blood, such as DNA, may help us understand what happens when genes function abnormally and how it might be related to disease.
详细描述
Researchers tested what changes happen in volunteers with ALS that can be seen in the blood and what changes are unique to ALS and are different from those found in healthy volunteers and volunteers with neurological diseases other than ALS. These changes are called biomarkers. Biomarkers for ALS have been found in blood collected in earlier phases of this study. Biomarkers are non-genetic elements in your blood that may help to make diagnosing ALS easier. In the next phase, comparison of these changes in the blood of volunteers with ALS and without ALS will be used to confirm these biomarkers and to develop a tool to diagnose and monitor progression of ALS.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Control
- 时间视角
- Prospective
入排标准
- 年龄范围
- 30 Years 至 80 Years（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Diagnosis of possible (excluding volunteers with UMN signs ONLY), probable, probable-laboratory supported, or definite ALS, either sporadic or familial according to revised El Escorial criteria
- •Disease duration of less than or equal to two years from symptom onset
- •Age 30-80 years at the time of disease onset
- •Ability to provide informed consent
- •Ability to comply with study procedures
- •Medically safe to have lumbar puncture (lumbar puncture volunteers only)
排除标准
- •Clinical evidence of chronic liver or renal failure
- •Presence of a bleeding disorder, problems with CSF pressure, allergy to local anesthetics, or a topical or other skin infection at the LP site (lumbar puncture volunteers only)
- •Use of any anti-platelet or anticoagulant drugs, such as plavix, aggrenox, ticlid, warfarin or coumadin (lumbar puncture volunteers only)
- •Suspected ALS (PMND) Volunteers
- •Inclusion Criteria:
- •Diagnosis of suspected ALS defined as presence of UMN or LMN signs alone and the diagnosis of Clinically Probably Laboratory-Supported ALS CANNOT be proven by evidence in clinical grounds in conjunction with electrodiagnostic, neurophysiologic, neuroimaging or clinically laboratory studies
- •Disease duration of less than or equal to four years from symptom onset
- •Age 30-80 years at time of disease onset
- •Ability to provide informed consent
- •Ability to comply with study procedures
- •Medically safe to have lumbar puncture (lumbar puncture volunteers only)
- •Exclusion Criteria:
- •Clinical evidence of chronic liver or renal failure
- •Genetically confirmed diagnosis of hereditary spastic paraparesis or spinal motor atrophy (SMA) disease
- •Presence of a bleeding disorder, problems with CSF pressure, allergy to local anesthetics, or a topical or other skin infection at the LP site (lumbar puncture volunteers only)
- •Use of any anti-platelet or anticoagulant drugs, such as plavix, aggrenox, ticlid, warfarin or coumadin (lumbar puncture volunteers only)
- •Neurological Disease Mimic Volunteers
- •Inclusion Criteria:
- •Diagnosis of one of the following:
- •Pure Lower Motor Neuron Disease (LMND) mimics:
- •Multi-focal motor neuropathy
- •Autoimmune motor neuropathy
- •Cervical or lumbosacral radiculopathies
- •Peripheral mononeuropathies:
- •Ulnar neuropathy
- •Carpal tunnel syndrome/median neuropathy
- •Peroneal neuropathy
- •Sciatic neuropathy
- •Spinal muscular atrophy
- •Spinobulbar muscular atrophy (Kennedy's disease)
- •Charcot Marie-Tooth Disease (CMT)
- •Pure Upper Motor Neuron Disease (UMND) mimics:
- •Cervical myelopathy
- •Multiple sclerosis
- •Hereditary spastic paraparesis
- •Age 30-80 years
- •Ability to provide informed consent
- •Ability to comply with study procedures
- •Medically safe to have lumbar puncture (lumbar puncture volunteers only)
- •Exclusion Criteria:
- •Diagnosis of suspected, possible, probable or definite ALS either sporadic or familial
- •Presence of positive family history of ALS
- •Clinical evidence of chronic renal or liver failure
- •Presence of a bleeding disorder, problems with CSF pressure, allergy to local anesthetics, or a topical or other skin infection at the LP site (lumbar puncture volunteers only)
- •Use of any anti-platelet or anticoagulant drugs, such as plavix, aggrenox, ticlid, warfarin or coumadin (lumbar puncture volunteers only)
- •Healthy Control Volunteers Inclusion Criteria
- •Absence of a known neurological disorder.
- •Age 30 - 80 years.
- •Ability to provide informed consent.
- •Ability to comply with study procedures.
- 另有 7 项未显示
结局指标
主要结局
ALS Functional Rating Scale (ALSFRS-R)
时间窗: Every 6 months
The ALSFRS-R is a quickly administered (5 min) ordinal rating scale used to determine a subject's assessment of their capability and independence in 12 functional activities. There are 12 questions, graded by the subject 0-4 (4 is normal). Score of 0 (worst) to 48 (best). Reflects speech and swallowing, fine motor skills, large motor skills, and breathing.
次要结局
未报告次要终点
研究者
James D. Berry MD
Principal Investigator
Massachusetts General Hospital