Amyotrophic lateral sclerosis
Conditions
Interventions
Gene positive group:None
Sponsors
West China Hospital of Sichuan University
Eligibility
Sex/Gender
All
Age
18 Years to 80 Years
Inclusion criteria
Inclusion criteria: (1)Family members carrying pathogenic or potentially pathogenic amyotrophic lateral sclerosis related gene mutations (gene mutations classified as pathogenic or potentially pathogenic according to ACMG standards); (2) No symptoms indicate the presence of amyotrophic lateral sclerosis(i.e. the study participants must currently be healthy); (3) According to the family lineage, the likelihood of carrying amyotrophic lateral sclerosis related gene mutations is at least 50%; (4) Willingness and availability to complete biomarker programs (such as MRI, biochemical testing, cognitive testing) every 12 ± 2 months; (5) At least 18 years old.
Exclusion criteria
Exclusion criteria: (1) The subjects were diagnosed with suspected ALS by two experienced clinical doctors; (2) The subject has any conditions or circumstances that may interfere with personal participation and adherence to the study protocol, including but not limited to neurological, psychological, and/or medical conditions.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Electromyogram;Plasma neurofilament light chain; | — |
Secondary
| Measure | Time frame |
|---|---|
| Food frequency questionnaire;Physical Activity Questionnaire;Frontal assessment battery;Hematological indicators;Montreal cognitive assessment;Edinburgh Cognitive and Behavioral ALS Screen;Head magnetic resonance imaging;Cell factor;Absolute count of TBNK cells;Immunoglobulin; | — |
Countries
China
Contacts
Public ContactChunyu Li
West China Hospital of Sichuan University
Outcome results
None listed