Validation of a New Innovative Method for Specific Marker Detection in Celiac Disease

Summary

Celiac disease (CD) is a common auto-immune disorder induced by gluten ingestion in genetically susceptible individuals (HLA-DQ2/DQ8). Gluten induces small-bowel villous atrophy and a specific immune response characterized by the production of CD-autoantibodies against transglutaminase 2 (anti-TG2) and endomysium (EMA). In symptomatic patients with positive-serum antibodies and villous atrophy, the diagnosis of CD is clearcut.

However, 10-30% of patients evaluated for suspected CD show only mild histopathologic changes and fluctuating serologic markers, a condition identified as potential CD. In such cases the diagnosis may remain uncertain.

CD-autoantibodies are produced by intestinal B-cells in the early phases of the disease, before their appearance in the serum and when the duodenal mucosa is still normal. Intestinal CD-antibodies (I-CD-abs) are a marker of CD, have a high sensitivity and specificity for CD and identify those patients with potential CD who are at risk of progression to villous atrophy. I-CD-abs can be detected by double immunofluorescence staining on frozen duodenal sections or by using an endomysial antibody assay in the culture medium of duodenal biopsies (EMAbiopsy).

The diagnostic accuracy of these techniques is comparable as they both have high sensitivity and specificity. However, their implementation in clinical practice is limited because they require both experienced operators and well-equipped laboratories. There is an unmet need: the development of a new simple and effective diagnostic tool that any gastroenterology unit can use in routine diagnostics to ensure a prompt diagnosis in suspected CD patients, who may benefit from a therapy based on gluten-free diet, and to reduce both unnecessary medical investigations and diagnostic delays.

In order to simplify and shorten times for the detection of these intestinal antibodies, the study aims to substitute the EMAbiopsy assay with a supernatant obtained quickly after mechanical lysis of fresh intestinal biopsy specimen. The obtained samples will be tested with rapid (about 15 minutes) immune-chromatographic anti-TG2 assay (Rapid Intestinal anti-TG2 Assay).

Conditions

• Celiac Disease in Children

Interventions

DIAGNOSTIC_TEST

Diagnostic Test: Rapid Intestinal anti-TG2 Assay

Evaluation of the reliability of the Rapid Intestinal anti-TG2 Assay for revealing anti-TG2 antibodies in duodenal biopsy specimens of patients suffering from CD, especially potential CD in which the diagnosis may be challenging. Intestinal anti-TG2 will be investigated also in patients suffering from other non-CD related gastrointestinal disorders. Sensitivity, specificity and likelihood ratios of the Rapid Intestinal anti-TG2 assay will be calculated and compared to the reference standard (serology + histopathology) of CD diagnosis.

DIAGNOSTIC_TEST

Diagnostic Test: Rapid Intestinal anti-TG2 Assay

Evaluation of the reliability of the Rapid Intestinal anti-TG2 Assay for revealing anti-TG2 antibodies in duodenal biopsy specimens of patients suffering from CD, especially potential CD in which the diagnosis may be challenging. Intestinal anti-TG2 will be investigated also in patients suffering from other non-CD related gastrointestinal disorders. Sensitivity, specificity and likelihood ratios of the Rapid Intestinal anti-TG2 assay will be calculated and compared to the reference standard (serology + histopathology) of CD diagnosis.

Sponsors & Collaborators

• IRCCS Burlo Garofolo

  lead OTHER

Eligibility

Min Age

2 Years

Max Age

17 Years

Sex

ALL

Healthy Volunteers

No

Timeline & Regulatory

Start

2023-10-04

Primary Completion

2025-05-31

Completion

2025-05-31

Countries

• Italy

Study Locations