PNRR-POC-2022-12376280 - Validation of a new innovative method for the easy detection of a disease specific marker to make prompt diagnosis of celiac disease in all the clinical manifestations: a paediatric multicenter study

Validation of a new innovative method for the easy detection of a disease specific marker to make prompt diagnosis of celiac disease in all the clinical manifestations: a paediatric multicenter study.

Cup C93C22008350001
Rup Prof. Alberto Tommasini
IRCCS Burlo garofolo
Via dell'Istria 65/1 - 34137 - Trieste

Finanziamento next generation EU

Celiac disease (CD) is one of the most common autoimmune disorders with a reported prevalence of 1-2% of the general population.

Celiac disease can occur at any age from early childhood to old age. However, the biopsy-proven prevalence of celiac disease was found to be approximately two times higher in children than adults. Indeed, celiac disease has become one of the most common chronic diseases among children, affecting 1 in every 100. The only effective treatment is a strict life-long gluten free diet. The diagnosis of CD can be challenging since symptoms can vary significantly from patient to patient: patients can be asymptomatic or suffer from a range of intestinal (diarrhea, abdominal distension, abdominal pain) and extraintestinal (iron deficiency anemia, growth failure, asthenia) symptoms. The gold standard for CD diagnosis is represented by the combination of mucosal changes detected by duodenal biopsy and by positivity of serum CD antibodies (anti-transglutaminase 2 [anti-TG2] and anti-endomysium antibodies [EMA]). However, an increasing number of symptomatic patients (10-30%) does not fulfil the current diagnostic criteria. In these challenging cases, the presence of intestinal CD antibodies is the only mucosal immunological marker of CD. Unfortunately, intestinal CD antibodies are not part of the diagnostic approach for the diagnosis of CD due to the complex techniques available for their detection.

This multicenter study aims to validate, in terms of diagnostic accuracy, an innovative patented method to easily and quickly detect in the paediatric population this powerful diagnostic marker. Briefly, this new method (Rapid Intestinal anti-TG2 Assay) requires a mechanical and manual dissociation of the duodenal specimen in a buffer solution that, after dissociation, will be loaded in an immunochromatographic cassette for the quick determination of intestinal IgA/IgG anti-TG2. This new test will be compared with the already known and established EMA biopsy assay in which intestinal fragment have to be cultivated for 72h at 37°C and, after incubation, intestinal EMA are detected in the culture medium following the manufacturer's instructions (Antiendomysium biopsy kit).

Therefore, paediatric patients suspected of CD or other gastrointestinal disorders will be consecutively enrolled by each gastroenterology unit involved in the project and intestinal biopsy samples will be collected and immediately processed. Sensitivity, specificity and likelihood ratios of Rapid Intestinal anti-TG2 Assay will be calculated and compared to the reference standard (serology + histopathology) of CD diagnosis. Moreover, the agreement of the Rapid Intestinal anti-TG2 Assay with EMA biopsy will be evaluated. The Rapid Intestinal anti-TG2 Assay might be a rapid, easy handling and effective diagnostic tool that any gastrointestinal unit could use to quickly investigate the intestinal CD antibodies marker in daily clinical practice in the wide spectrum of manifestations of CD.

This would mean that paediatric patients suffering from a diagnostically challenging form of CD would benefit of a prompt and well-founded diagnosis allowing earlier commencement of the diet therapy with resolution of symptoms and reducing unnecessary medical investigations associated with delayed diagnosis of CD.

Dettagli:

Missione: M6 – Salute;
Componente: M6C2 –  Innovazione, ricerca e digitalizzazione del Servizio Sanitario
Investimento: 2.1 Valorizzazione e potenziamento della ricerca biomedica del SSN
Amministrazione Titolare: Ministero della Salute o Agenas
Soggetto Attuatore: IRCCS Burlo Garofolo

Importo finanziato

  
Avanzamento del progetto

Stato di avanzamento: In corso. Prorogato di 6 mesi. Data inizio 20/05/2023, data di fine 20/11/2025