Clinical trial NCT05888558: Screening of Serum Exosomal miRNA as a Biomarker for Ocular Muscle Myasthenia Gravis
Official title: Screening of Serum Exosomal miRNA as a Biomarker for Ocular Muscle Myasthenia
Study type: OBSERVATIONAL
Overall status: UNKNOWN
Conditions: Myasthenia Gravis
Keywords: Ocular myasthenia gravis;
miRNA
exosomes
Lead sponsor: First Affiliated Hospital of Jinan University
Sponsor class: OTHER
First posted: 2023-06-05
Enrollment: 160
Sex: ALL
Minimum age (years): 18
Maximum age (years): 50
Standard ages: ADULT
Accepts healthy volunteers: yes
Observational model: CASE_CROSSOVER
Time perspective: CROSS_SECTIONAL
Sampling method: PROBABILITY_SAMPLE
Study population: People within age 18-50 years old who is diagnosed with OMG,GMG or healthy people.

Brief summary: Ocular muscle myasthenia gravis (Ocular Myasthenia Gravis, OMG) has a high incidence and is difficult to diagnose. It is very necessary to find specific diagnostic indicators for OMG. By collecting peripheral blood of OMG, systemic myasthenia gravis and healthy people, extract miRNAs derived from exosomes in the serum and perform high-throughput sequencing, then use bioinformatics analysis methods to screen specifically expressed miRNAs as biomarkers for OMG diagnosis .

Detailed description: Part I: (1) Collect peripheral blood samples from patients with early-onset OMG, early-onset GMG and healthy subjects of age and sex matched who have been diagnosed for the first time and have not undergone any drug treatment. There are 6 cases in each group. Extract the secretion miRNA in serum and conduct high-throughput sequencing. Analyze and compare the differential expression miRNAs between OMG, GMG and healthy control groups by edgeR. The standard of differential expression is set as \| logFC \|\>1, p\<0.05. Use miRTarBase, TargetScan, and miRDB to predict target genes for differentially expressed miRNAs. Conduct GO enrichment and KEGG signaling pathway analysis on target genes. The STRING tool is used to construct the target gene protein interaction network (PPI). According to the importance of the target gene calculated by the maximum population concentration ratio (MCC) method, the top ten genes (hub genes) are selected and analyzed.

(2) Randomly collect peripheral blood samples from patients with early-onset OMG, early-onset GMG, and age-matched healthy subjects, with 10 samples in each group. The differentially expressed miRNAs obtained during the sequencing phase were validated using real-time fluorescence quantification (RT-qPCR). Construct a receiver operating characteristic curve (ROC) curve to evaluate the diagnostic efficacy of the identified miRNA.

Eligibility criteria: Inclusion Criteria:

* Clinical manifestations: fluctuating myasthenia;

  * neostigmine test positive; ③ AChR-Ab, Musk-Ab, LRP4-Ab antibodies positive; ④repetitive nerve stimulation or single fiber EMG Positive (comply with the first one of the above diagnostic criteria and any one of the other three, and at the same time exclude ophthalmoplegia caused by other diseases, the diagnosis can be confirmed).

Exclusion Criteria:

①Combined with other autoimmune diseases or other inflammatory diseases; ②Patients with tumorous diseases;

* Received targeted biologics, intravenous gamma globulin, plasma exchange therapy within three months before treatment; ④Pregnancy Status or lactation

Primary outcomes:
measure: A specific miRNA maybe miR-340-5p，miR-106b-5p or miR-27a-3p is a biological marker for diagnosis of OMG
timeFrame: 12,2022
Secondary outcomes:
Other outcomes:
Locations:
city: Guangzhou
country: China
facility: First Affiliated Hospital of Jinan University
state: Guangdong
Study officials:
References: