EGR2 and NLRP3 Pathways in Obstructive Sleep Apnea-Related Cognitive and Mood Disorders

NCT07120711 | Recruiting

• 1 other identifier: XHEC-C-2025-163-1
• Study Type: observational
• Target: 1,000
• Locations: 1 country
• Sites: 1

Brief Summary

Obstructive sleep apnea-hypopnea syndrome (OSAS) is a common disorder in which repeated airway blockages during sleep lead to low oxygen levels, inflammation, and disrupted sleep. Many OSAS patients-both children and adults-experience problems with memory, attention, and mood, such as anxiety or depression. However, the exact molecular drivers of these brain changes are not fully understood. This observational study will enroll: Children (ages 2-18) and adults (\>18 years) with OSAS, as well as age- and sex-matched healthy volunteers. Clinical assessments: Children will undergo routine ENT examinations (including nasal endoscopy and X-rays); adults will have an overnight sleep study (polysomnography). All participants will complete questionnaires on sleepiness (e.g., ESS), mood (PHQ-9, GAD-7), and cognitive screening (MoCA for adults, age-appropriate scales for children). Sample collection: A small blood draw (3 mL) and, when applicable (e.g., adults undergoing surgery), a tiny subcutaneous fat biopsy. Saliva samples will also be collected. Laboratory tests: Measure expression levels of two key inflammatory pathway genes-EGR2 and NLRP3-in blood cells, saliva, and fat tissue using RNA sequencing, RT-qPCR, and Western Blot. Correlate these molecular markers with sleep parameters (AHI, oximetry), cognitive scores, and mood scores. Data analysis: Develop and validate machine-learning models that integrate data from multiple tissues to predict who is at highest risk for cognitive or mood disturbances.

Conditions

Obstructive Sleep Apnea-Hypopnea Syndrome; Anxiety Disorders; Depressive Disorders

Outcome Measures

Primary Outcomes (1)

• Expression levels of EGR2 and NLRP3 in PBMCs, saliva, and subcutaneous fat tissue

  Quantitative measurement of EGR2 and NLRP3 mRNA (by RNA-seq and RT-qPCR) and protein levels (by Western blot and ELISA) in peripheral blood mononuclear cells, saliva, and (when available) subcutaneous fat tissue collected at baseline. These molecular markers will be correlated with cognitive (MoCA) and mood (PHQ-9, GAD-7) scores

  Jul 2025 - Sep 2026

Secondary Outcomes (1)

• Multi-omics association of molecular markers with clinical phenotypes

  Jul 2025 - Sep 2026

Study Arms (4)

OSAS_chlidren

Procedure: EGR2/NLRP3 pathway activity

OSAS_adult

Procedure: EGR2/NLRP3 pathway activity; Procedure: fatty tissue

non_OSAS_chlidren

Procedure: EGR2/NLRP3 pathway activity

non_OSAS_adult

Procedure: EGR2/NLRP3 pathway activity; Procedure: fatty tissue

Interventions

EGR2/NLRP3 pathway activity PROCEDURE

Peripheral blood collection \& PBMC isolation: Children: 3 mL venous blood drawn from the right antecubital vein preoperatively; Adults: 3 mL fasting venous blood drawn the morning after PSG. Collected in EDTA tubes; PBMCs separated via Ficoll-Paque density gradient. Flow cytometry: 1×10⁶ PBMCs stained for CD14/CD16, HLA-DR, CD11b, CD80/CD86, CD163/CD206. RNA extraction: Remaining PBMCs lysed in TRIzol and stored at -80 °C for RT-qPCR of EGR2, NLRP3, and downstream genes Serum/plasma: Within 1 h of collection, centrifuge at 400 × g for 10 min at 4 °C; 1 mL used for ELISA quantification of TNF-α, IL-6, IL-1β, CCL2, IL-17, CRP; remainder stored at -80 °C for future proteomic or metabolomic assays Saliva sampling \& processing: 2-3 mL unstimulated saliva expectorated into sterile tubes, kept at 4 °C, processed (centrifuged, aliquoted) within 2 h, then stored at -80 °C.

OSAS_adult; OSAS_chlidren; non_OSAS_adult; non_OSAS_chlidren

fatty tissue PROCEDURE

Subcutaneous fat biopsy (adults undergoing surgery): 100-200 mg obtained intraoperatively, placed in RNAlater at 4 °C for 24 h, then frozen at -80 °C for downstream RNA-seq, RT-qPCR, and Western blot analyses of EGR2, NLRP3, and related inflammatory markers

OSAS_adult; non_OSAS_adult

Eligibility Criteria

• Age: 5 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

his observational study will enroll both pediatric and adult participants with obstructive sleep apnea-hypopnea syndrome (OSAS) alongside age-matched healthy controls. Specifically: Pediatric cohort (2-18 years): Four age strata (2-6, 7-9, 10-12, 13-18 years), each with 50 OSAS patients and 50 healthy controls. Adult cohort (\>18 years): Four age strata (18-40, 41-60, 61-80, \>80 years), each with 50 OSAS patients and 50 healthy controls. Participants will be recruited from the ENT outpatient and sleep/respiratory clinics of Shanghai Xinhua Hospital and the MED-X Research Institute, Shanghai Jiao Tong University, between July 2025 and September 2026.

You may qualify if:

• Children aged 2-18 years with obstructive snoring or sleep apnea features on initial ENT outpatient screening.
• Adults (\>18 years) with suspected OSAS in a sleep or respiratory clinic, presenting with chronic snoring, witnessed apneas, or daytime sleepiness, and without severe chronic heart, liver, kidney failure, psychiatric disorders, or pregnancy.
• Signed written informed consent by the participant or their legal guardian. Not currently enrolled in any other registered clinical trial.

You may not qualify if:

• Presence of congenital craniofacial malformations. Severe heart, lung, liver, or kidney failure, or major neurological disease. Recent use of anti-inflammatory or other immunomodulatory medications. Current psychiatric disorder or pregnancy

Sponsors & Collaborators

• Xinhua Hospital, Shanghai Jiao Tong University School of Medicine: lead

Study Sites (1)

Shanghai Xinhua hospital

Shanghai, China

RECRUITING

MeSH Terms

Conditions

Anxiety Disorders; Depressive Disorder

Condition Hierarchy (Ancestors)

Mental Disorders; Mood Disorders

Central Study Contacts

Jiang, PHD,MD

CONTACT

13817719616; jianglaimz@sina.com

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: 021-25077820

Study Record Dates

• First Submitted: August 7, 2025
• First Posted: August 13, 2025
• Study Start: July 1, 2025
• Primary Completion: July 22, 2025
• Study Completion (Estimated): September 30, 2026
• Last Updated: August 13, 2025

Record last verified: 2025-08

Data Sharing

• IPD Sharing: Will not share

Locations

CN (1)