Clinical trial NCT06502015: Biomarkers in Autoimmune Disease of Nervous System
Official title: Biomarkers of Neurological Autoimmune Diseases
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Autoimmune Diseases of the Nervous System
Neuromyelitis Optica Spectrum Disorder
Multiple Sclerosis
Guillain-Barre Syndrome
Acute Disseminated Encephalomyelitis
Autoimmune Encephalitis
Stiff-Person Syndrome
Myasthenia Gravis
Chronic Inflammatory Demyelinating Polyradiculoneuropathy
Idiopathic Inflammatory Myopathies
Autoimmune Diseases
Keywords: Biomarker
Autoimmune Diseases of the Nervous System
Immune cell
Lead sponsor: Tongji Hospital
Sponsor class: OTHER
First posted: 2024-07-15
Enrollment: 50000
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Patients with neurological autoimmune disease admission to Department of Neurology and Neurosurgery, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology from June 1, 2024 - May 31, 2034.

Brief summary: Neurological autoimmune diseases are a group of disorders characterized by the abnormal immune response attacking the nervous system, including the brain, spinal cord and peripheral nerves. These diseases exhibit high heterogeneity, diverse clinical presentations, and are challenging to diagnose and manage due to a lack of effective treatments. In this study, the investigators will recruit eight kinds of autoimmune diseases of nervous system including Neuromyelitis Optica Spectrum Disorder (NMOSD), Myasthenia Gravis (MG), Chronic Inflammatory Demyelinating Polyradiculoneuropathy (CIDP), idiopathic inflammatory myopathy (IIM), and multiple sclerosis (MS), autoimmune encephalitis (AE), Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease (MOGAD). Through this study, the investigators aim to discover biomarkers with high sensitivity, specificity, and stability, which can support early diagnosis, disease monitoring, and personalized treatment for neurological autoimmune diseases, thereby improving the quality of life and prognosis for patients.

Detailed description: Autoimmune diseases of the nervous system are a type of disease in which the human immune system mistakenly attacks its own nervous system, causing damage to the structure and function of the nervous system. Its main pathogenic mechanism is that autoimmune cells, autoantibodies and other immune molecules directly or indirectly attack the nervous system. Autoimmune diseases of the nervous system can affect the central nervous system, peripheral nervous system and neuromuscular junction, leading to pathological changes such as neuronal or axonal damage, demyelination, and destruction of neuromuscular junction. Autoimmune diseases of the nervous system are relatively rare, with a wide range of damage and complex and diverse clinical manifestations. They have the characteristics of complexity of immune diseases and high mortality and disability of nervous system diseases. At present, the understanding of the disease is limited, and some diseases are difficult to diagnose. Globally, it is a major cause of disability in young and middle-aged people and can cause huge social and economic burdens. However, due to the lack of a series of relatively reliable prognostic predictors, it is impossible to carry out personalized immunotherapy to achieve the best therapeutic effect, and serious adverse events may occur. Proteomics, metabolomics, intestinal microorganisms and intestinal high-throughput targeted metabolomics, exosomes, miRNA sequencing, single-cell transcriptome sequencing and other detection methods and lymphocyte subsets have been hot topics in the study of various diseases in recent years. It has been found that abnormalities in the expression and function of certain genes, proteins, metabolites, miRNAs, intestinal flora and lymphocyte subsets are closely related to the occurrence and development of many diseases and the functional disability of patients, and have a good suggestive effect on prognosis judgment.

Eligibility criteria: Inclusion Criteria:

* Clinical diagnosis with autoinflammatory diseases of the nervous system, including: Neuromyelitis Optica Spectrum Disorder (NMOSD), Myasthenia Gravis (MG), Chronic Inflammatory Demyelinating Polyradiculoneuropathy (CIDP), idiopathic inflammatory myopathy(IIM), multiple sclerosis (MS), autoimmune encephalitis (AE), Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease (MOGAD), ect al.
* sex and age-matched healthy individuals

Exclusion Criteria:

* Known history of primary immunodeficiency (innate or acquired).
* Patients with severe central nervous system, pulmonary, or other systemic infections.
* Patients with secondary central nervous system demyelinating lesions, such as those caused by vasculitis, systemic lupus erythematosus, and Sjögren's syndrome.
* Patients with vascular (including hemorrhagic and ischemic), hereditary metabolic, neoplastic, or toxic diseases.
* Pregnant or lactating women.

Primary outcomes:
measure: All-cause mortality
timeFrame: 10 years
Secondary outcomes:
measure: Autoimmune disease of any kind
timeFrame: 10 years
Other outcomes:
measure: Accumulated total active MRI lesions
timeFrame: 10 years
measure: Expanded Disability Status Scale (EDSS) score
timeFrame: 10 years
measure: Modified Rankin Scale
timeFrame: 10 years
measure: Visual acuity
timeFrame: 10 years
measure: Quantitative Myasthenia Gravis Score (QMG)
timeFrame: 10 years
measure: Myasthenia Gravis Activities if Daily Living (MG-ADL) Score
timeFrame: 10 years
measure: Inflammatory Neuropathy Cause and Treatment (INCAT) Score
timeFrame: 10 years
measure: Medical Research Council (MRC) muscle function Score
timeFrame: 10 years
measure: Manual Muscle Testing (MMT) Score
timeFrame: 10 years
measure: 36-item Short Form Generic Health Survey (SF-36) score
timeFrame: 10 years
measure: EuroQol-five dimensions (EQ-SD) score
timeFrame: 10 years
measure: Visual analogue scale (VAS) pain score
timeFrame: 10 years
measure: Changes of concentration( pg/mL) of cytokines
timeFrame: 10 years
measure: Profiling of immune cell subtypes
timeFrame: 10 years
Locations:
city: Wuhan
country: China
facility: Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology
Study officials:
affiliation: Tongji Hospital
name: Dai-shi Tian, MD
role: PRINCIPAL_INVESTIGATOR
References:
citation: McPherson RC, Anderton SM. Adaptive immune responses in CNS autoimmune disease: mechanisms and therapeutic opportunities. J Neuroimmune Pharmacol. 2013 Sep;8(4):774-90. doi: 10.1007/s11481-013-9453-9. Epub 2013 Apr 9.
citation: Stenager E. A global perspective on the burden of multiple sclerosis. Lancet Neurol. 2019 Mar;18(3):227-228. doi: 10.1016/S1474-4422(18)30498-8. Epub 2019 Jan 21. No abstract available.
citation: Solomon AJ, Arrambide G, Brownlee WJ, Flanagan EP, Amato MP, Amezcua L, Banwell BL, Barkhof F, Corboy JR, Correale J, Fujihara K, Graves J, Harnegie MP, Hemmer B, Lechner-Scott J, Marrie RA, Newsome SD, Rocca MA, Royal W 3rd, Waubant EL, Yamout B, Cohen JA. Differential diagnosis of suspected multiple sclerosis: an updated consensus approach. Lancet Neurol. 2023 Aug;22(8):750-768. doi: 10.1016/S1474-4422(23)00148-5.