Caspase-1 Activity, IL-1beta, and IL-18 in Patients With FMF

NCT06981520 | Not Yet Recruiting

• 2 other identifiers: Hitit University, Çorum2025/37
• Study Type: observational
• Target: 30
• Locations: 1 country
• Sites: 1

Brief Summary

This study aims to investigate the intestinal mucosal expression of key inflammatory markers, namely Interleukin-1 (IL-1), Interleukin-18 (IL-18), and Caspase-1, in patients with Familial Mediterranean Fever (FMF). FMF is an autoinflammatory disorder characterized by recurrent episodes of fever and serosal inflammation. Recent studies suggest a possible role of intestinal immune activation in the disease pathogenesis, particularly through inflammasome-related cytokines. To better understand mucosal involvement in FMF, immunohistochemical staining for IL-1, IL-18, and Caspase-1 will be performed on intestinal biopsy samples obtained during routine endoscopic procedures. The staining intensity and distribution patterns will be evaluated and compared with age- and sex-matched healthy controls. The findings may help clarify mucosal inflammatory pathways involved in FMF and provide insight into novel therapeutic targets.

Conditions

Familial Mediterranean Fever; Intestinal Disease; Genetic Disease; Fever

Outcome Measures

Primary Outcomes (3)

• Level of IL-1 in Mucosal Biopsies (Semi-Quantitative Score)

  Semi-quantitative scoring of immunohistochemical staining in mucosal biopsies; comparison between FMF and control groups

  Single time point, Day 1 (during biopsy analysis)

• Level of IL-18 in Mucosal Biopsies (Semi-Quantitative Score)

  Semi-quantitative scoring of immunohistochemical staining in mucosal biopsies; comparison between FMF and control groups

  Single time point, Day 1 (during biopsy analysis)

• Caspase-1 Expression in Mucosal Biopsies (Semi-Quantitative Score)

  Semi-quantitative scoring of immunohistochemical staining in mucosal biopsies; comparison between FMF and control groups

  Single time point, Day 1 (during biopsy analysis)

Study Arms (2)

Grup 1: Group Title: FMF Patients Group/Cohort Label: FMF

1\. FMF Patients (Group/Cohort Description) Patients diagnosed with Familial Mediterranean Fever (FMF) according to clinical criteria and/or genetic analysis. Intestinal mucosal biopsy samples were obtained during routine endoscopy, and immunohistochemical staining for IL-1, IL-18, and Caspase-1 was performed.

Grup 2: Group Title: Healthy Controls Group/Cohort Label: Control

2\. Healthy Controls (Group/Cohort Description) Healthy individuals without any known inflammatory or autoimmune disease, undergoing endoscopy for non-inflammatory indications such as functional gastrointestinal symptoms. Mucosal biopsy samples were collected and analyzed immunohistochemically for IL-1, IL-18, and Caspase-1 expression.

Eligibility Criteria

• Age: 18 Years - 55 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

This study includes adult patients diagnosed with Familial Mediterranean Fever (FMF) who underwent routine endoscopic evaluation with intestinal mucosal biopsies. A control group composed of age- and sex-matched individuals without inflammatory or autoimmune diseases was also included for comparative analysis. All participants were retrospectively selected based on availability of adequate tissue samples and relevant clinical data.

You may qualify if:

• Confirmed diagnosis of Familial Mediterranean Fever (FMF) according to Tel-Hashomer clinical criteria and/or MEFV gene mutation analysis (for FMF group)
• Undergoing routine endoscopy with mucosal biopsy sampling
• Availability of sufficient formalin-fixed paraffin-embedded (FFPE) tissue for immunohistochemical analysis
• For controls: absence of systemic inflammatory or autoimmune disease -

You may not qualify if:

• Current use of immunosuppressive therapy (excluding colchicine)
• Severe infection, active malignancy, or other systemic disease affecting intestinal mucosa
• Inadequate biopsy specimen quality for histopathological evaluation

Sponsors & Collaborators

• Hitit University: lead

Study Sites (1)

Hitit University Erol Olçok Training and Research Hospital

Çorum, 19040, Turkey (Türkiye)

Location

Biospecimen

Retention: SAMPLES WITHOUT DNA

Formalin-fixed paraffin-embedded (FFPE) intestinal mucosal biopsy samples collected during routine endoscopy.

MeSH Terms

Conditions

Familial Mediterranean Fever; Intestinal Diseases; Genetic Diseases, Inborn; Fever

Condition Hierarchy (Ancestors)

Hereditary Autoinflammatory Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Gastrointestinal Diseases; Digestive System Diseases; Body Temperature Changes; Signs and Symptoms; Pathological Conditions, Signs and Symptoms

Study Officials

• Mustafa Şahin, Assoc.Prof

  Hitit University Faculty of Medicine, Turkey

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Mustafa Şahin, Assoc.Prof

CONTACT

+90 364 219 30 00; sahinmustafa@hitit.edu.tr

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: OTHER
• Target Duration: 8 Months
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principal Investigator, Associate Professor of Medical Biochemistry

Study Record Dates

• First Submitted: April 29, 2025
• First Posted: May 20, 2025
• Study Start: July 10, 2025
• Primary Completion: December 10, 2025
• Study Completion: January 19, 2026
• Last Updated: May 20, 2025

Record last verified: 2025-05

Data Sharing

• IPD Sharing: Will not share

Locations

TU (1)