Motor Neuron Disease
Conditions
Interventions
Control group:None
Sponsors
Huashan Hospital, Fudan University
Eligibility
Sex/Gender
All
Age
18 Years to 65 Years
Inclusion criteria
Inclusion criteria: 1.[Demographic Characteristics] 1. ALS Group: 18-65 years, any gender. 2. HC Group: 18-65 years, matched with the ALS group in age (±5 years) and gender. 2.[Diagnosis & Health Status] 1. ALS Group: Diagnosed according to the revised El Escorial criteria for ALS, confirmed by electromyography (EMG), brain/spinal cord imaging, and clinical symptom assessment. 2. HC Group: No history or family history of neurological diseases, confirmed healthy by physical and neurological examinations. 3.[Severity & Sampling] 1. ALS Group: An ALSFRS-R score >= 30, with an expected survival time >= 1 year (to reduce the risk of sample loss to follow-up and ensure the integrity of research data). 2. HC Group: Willing to provide 6-8ml peripheral blood and undergo genetic testing (to exclude potential ALS pathogenic gene carrying ). 4.[Informed Consent & Compliance] Common: Voluntarily signing a written informed consent form and being able to understand and cooperate with the study procedures. 5.[Others] Common: No severe behavioral abnormalities (such as a history of substance abuse or severe mental illness) that would affect sample quality or the interpretation of research data.
Exclusion criteria
Exclusion criteria: 1.[Neurological Interference] 1. ALS Group: Comorbid other neurological diseases (Such as Alzheimer’s disease, Parkinson’s disease, multiple sclerosis, spinal cord injury, Kennedy’s disease, etc., which may interfere with the detection of SG-related indicators and mechanism analysis). 2. HC Group: There are potential neurological diseases (family history of degenerative diseases such as ALS and Parkinson 's disease); physical examination or neurological function assessment found abnormalities (such as decreased muscle strength, tendon hyperreflexia); ALS-related pathogenic genes were detected positive (to exclude potential carriers). 2.[Severe Comorbidities] Common: Presence of severe cardiac insufficiency (NYHA class III–IV), liver cirrhosis (Child–Pugh class B or higher), renal failure requiring dialysis, coagulopathy (INR > 1.5), or active infections (e.g., sepsis, tuberculosis), which may increase the risk of sample collection or interfere with study results. 3.[Special Populations & Cognition] Common: Pregnant or lactating women; individuals with mental illness (such as schizophrenia, major depressive disorder) or cognitive impairment (MMSE score < 24) who are unable to cooperate with the study procedures. 4.[Sampling Contraindications] Common: Presence of definite contraindications to lumbar puncture or venous blood collection (such as infection at the puncture site or severe bleeding tendency), or refusal to cooperate with sample collection.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Amyotrophic Lateral Sclerosis Functional Rating Scale - Revised (ALSFRS-R); | — |
Secondary
| Measure | Time frame |
|---|---|
| Demographic characteristics; | — |
Countries
China
Contacts
Public ContactXiangjun Chen
Huashan Hospital, Fudan University
Outcome results
None listed