Caspase-1 Activity, IL-1beta, and IL-18 in Patients With FMF
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: Familial Mediterranean Fever, Intestinal Disease, Genetic Disease, Fever. Basic parameters: 18 years — 55 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- Turkey (Türkiye)
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Official title
Effect of Caspase-1 Activity, IL-1beta, and IL-18 on Inflammation in the Mucosa of the Small Intestine of Patients With FMF
Overview
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.
Detailed description
Familial Mediterranean Fever (FMF) is a hereditary autoinflammatory disease characterized by recurrent episodes of fever, serositis, and elevated acute-phase reactants. The underlying pathophysiology involves mutations in the MEFV gene, which encodes pyrin, a protein involved in the regulation of the inflammasome complex. Aberrant inflammasome activation has been associated with increased production of pro-inflammatory cytokines, including interleukin-1 beta (IL-1β) and interleukin-18 (IL-18), mediated through caspase-1 cleavage.
Although FMF primarily affects serosal surfaces, emerging evidence suggests that intestinal mucosal inflammation may also play a role in disease pathogenesis, possibly contributing to atypical symptoms such as abdominal pain, diarrhea, or subclinical intestinal involvement. However, the extent and nature of this mucosal immune activation remain largely unexplored.
This study is designed to evaluate the expression of IL-1, IL-18, and Caspase-1 in intestinal mucosal biopsy specimens obtained from FMF patients during routine endoscopic evaluation. Immunohistochemical staining techniques will be applied to assess the localization and intensity of these markers. The results will be compared to a control group of age- and sex-matched individuals undergoing endoscopy for non-inflammatory indications (e.g., functional gastrointestinal disorders) and without histopathologic mucosal abnormalities.
Staining will be semi-quantitatively scored by two independent pathologists blinded to clinical data. Correlations between cytokine expression levels and clinical characteristics of FMF (e.g., disease duration, mutation status, attack frequency, colchicine response) will also be explored.
This study aims to provide insights into the role of mucosal inflammasome activity in FMF, potentially identifying novel biomarkers or therapeutic targets. By characterizing intestinal expression of key inflammasome-related cytokines, we hope to expand current understanding of FMF pathophysiology beyond classical serosal involvement.
Primary outcome measures
- Level of IL-1 in Mucosal Biopsies (Semi-Quantitative Score) [Time frame: Single time point, Day 1 (during biopsy analysis)]
- Level of IL-18 in Mucosal Biopsies (Semi-Quantitative Score) [Time frame: Single time point, Day 1 (during biopsy analysis)]
- Caspase-1 Expression in Mucosal Biopsies (Semi-Quantitative Score) [Time frame: Single time point, Day 1 (during biopsy analysis)]
Eligibility criteria
Inclusion Criteria:Age 18 years or older
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 -
Exclusion Criteria:History of inflammatory bowel disease (e.g., Crohn's disease, ulcerative colitis)
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
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Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: Yes
Study design
- Observational model
- Case-control
Study locations
Turkey (Türkiye) · 1 center
- Hitit University Erol Olçok Training and Research Hospital — Çorum
Identifiers
NCT: NCT06981520 · Hitit University, Çorum · 2025/37