Background of Different Phenotypes of Coeliac Disease

Genetic and Biological Background and Follow-up of Different Phenotypes of Coeliac Disease

The main purpose of this study is to investigate genetic, serological, immunological and microbiata diversities between different coeliac disease phenotypes and to discover applicable prognostic markers for specific phenotypes.

Study Overview

• Status: Recruiting
• Conditions: Celiac Disease; Dermatitis Herpetiformis
• Intervention / Treatment: Genetic: Genetic predisposition

Detailed Description

The recognition of clinical heterogeneity has expanded the understanding of coeliac disease, but the factors contributing to this diversity remain unclear. Moreover, since coeliac disease is highly heterogeneous, there is a need for more individualized follow-up and support and implementation of more personalized follow-up guidelines.

In this study coeliac disease and dermatitis herpetiformis patients and healthy controls will be recruited. Genetic, clinical, immunological, micobiata and novel biomedical markers are compared between coeliac disease phenotypes and also controls and their prognostic value is assessed.

• Study Type: Observational
• Enrollment (Estimated): 3500

Contacts and Locations

• Study Contact: Name: Teea T Salmi, Prof; Phone Number: +358503016355; Email: teea.salmi@pshp.fi

Study Locations

• Finland
  • Tampere, Finland, 33521
    • Recruiting
    • Tampere University Hospital
    • Contact: Teea T Salmi, Prof; Phone Number: +358 503016355; Email: teea.salmi@tuni.fi
    • Principal Investigator: Teea T Salmi, Prof

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: Yes

• Sampling Method: Non-Probability Sample

Study Population

National and also focused recruitment for patients with coeliac disease or dermatitis herpetiformis diagnosis. Healthy controls recruited via volunteered subjects with coeliac disease or dermatitis herpetiformis

Description

Inclusion Criteria:

• Cohorts 1 and 2: coeliac disease or dermatitis herpetiformis diagnosis
• Cohort 3: friend or non-related family member of coeliac disease or dermatitis herpetiformis patient

Exclusion Criteria:

• Cohorts 1-3: Age <18 years
• Cohorts 1 and 2: coeliac disease or dermatitis herpetiformis diagnosis not confirmed
• Cohort 3: coeliac disease or dermatitis herpetiformis diagnosis

Study Plan

How is the study designed?

Design Details

• Observational Models: Case-Control
• Time Perspectives: Cross-Sectional

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Coeliac disease patients; Adult (18 years or over) patients with previous coeliac disease or dermatitis herpetiformis diagnosis	Genetic: Genetic predisposition; Assessment of genetic predisposition to various celiac disease phenotypes. No intervention.
Healthy controls; 500 adult (18 years or over) friends or non-related family members of coeliac disease or dermatitis herpetiformis patients participating in the study, no previous coeliac disease or dermatitis herpetiformis diagnosis. In addition 1000 controls will be included from Biobank	Genetic: Genetic predisposition; Assessment of genetic predisposition to various celiac disease phenotypes. No intervention.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Non-HLA variant association	phenotype specific non-HLA variants	baseline

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
serum transglutaminase antibodies	Levels of serum antibodies against transglutaminase	baseline
microbiata	skin and intestinal microbiata findings	baseline
quality of life measure	PGWB questionnaire (22-items with values 1-6, total score range 22-132, a higher score indicating better quality of life)	baseline
gastrointestinal symptoms	GSRS-questionnaire (15 items with values 1-7, total score 1-7 as a mean value of all scores, higher score indicating more severe symptoms)	baseline
dietary adherence	strictness of gluten-free diet (GIP-test)	baseline

Collaborators and Investigators

• Sponsor: Tampere University Hospital
• Collaborators: Oslo University Hospital; University of Turku; Oulu University Hospital; University of Trieste; University of Helsinki; Tampere University; University of Debrecen

Study record dates

Study Major Dates

• Study Start (Actual): November 8, 2022
• Primary Completion (Estimated): December 31, 2027
• Study Completion (Estimated): December 31, 2030

Study Registration Dates

• First Submitted: October 3, 2022
• First Submitted That Met QC Criteria: October 25, 2022
• First Posted (Actual): October 28, 2022

Study Record Updates

• Last Update Posted (Estimated): September 17, 2025
• Last Update Submitted That Met QC Criteria: September 10, 2025
• Last Verified: September 1, 2025

More Information

Terms related to this study

• Keywords: gluten-free diet; coeliac disease; dermatitis herpetiformis; transglutaminase; microbiata
• Additional Relevant MeSH Terms: Metabolic Diseases; Intestinal Diseases; Autoimmune Diseases; Immune System Diseases; Digestive System Diseases; Gastrointestinal Diseases; Skin Diseases; Malabsorption Syndromes; Skin Diseases, Vesiculobullous; Dermatitis; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Celiac Disease; Dermatitis Herpetiformis; Investigative Techniques; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Health Services; Health Care Facilities Workforce and Services; Preventive Health Services; Genetic Techniques; Genetic Services; Diagnostic Services; Genetic Testing
• Other Study ID Numbers: R22088

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No