Characterization of the Fungal Origins in the Autoimmune Polyendocrinopathy of Type 1 Compared With the Autoimmune Polyendocrinopathies of Type 2

NCT ID: NCT03800056

Last Updated: 2022-02-16

Basic Information

• Recruitment Status: RECRUITING
• Total Enrollment: 30 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2021-04-23
• Study Completion Date: 2026-04-30

Brief Summary

Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) is an autosomal recessive disease caused by mutations in the autoimmune regulator (AIRE) gene, characterized by the clinical triad of chronic mucocutaneous candidiasis (CMC), hypoparathyroidism, and adrenal insufficiency. CMC can be complicated by systemic candidiasis or oral squamous cell carcinomas (SCCs) and may lead to death. The role of chronic Candida infection in the etiopathogenesis of oral SCC is unclear. Long term use of fluconazole lead to emergence of C. albicans strains with azoles decreased susceptibility. CMC is associated with an impaired Th17 cell response, however, it remains unclear whether decreased serum IL-17 and IL-22 levels are related to a defect in cytokine production or to neutralizing autoantibodies resulting from mutations in the AIRE gene

Conditions

Polyendocrinopathies, Autoimmune

Study Design

• Observational Model Type: COHORT
• Study Time Perspective: PROSPECTIVE

Study Groups

Group 1 APS 1

Patients with a APS type 1 whose molecular diagnosis (mutation of the AIRE gene) has been established in the diagnosis of the disease, regardless of their mycological status (history of mycosis) or the presence of antifungal treatment.

No interventions assigned to this group

Group 2 APS2

Patients with APS type 2: - with adrenal insufficiency for 50% of them. - a delay of two weeks after stopping antifungal or antibiotic treatment in patients is to be respected.

No interventions assigned to this group

Eligibility Criteria

Inclusion Criteria

• children aged 0 to 17 years old with the consent of both parents, and men and women between the ages of 18 and 85.
• a reasonable delay of 2 weeks after the resolution of an intercurrent infectious episode is to be observed.
• assent of the patient after information adapted to his age and his degree of understanding.
• informed, express and written consent of the patient or of each of the holders of parental authority.

Exclusion Criteria

• impossibility to receive informed information for adults, or impossibility to receive enlightened information for the holders of parental authority if minor subject
• inability to participate in the entire study, refusal to sign the consent.
• people in an emergency situation.
• persons deprived of their liberty.
• pregnant or lactating woman (pregnant women will be offered to participate in the study after delivery).

• Maximum Eligible Age: 85 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

University Hospital, Lille

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Marie-Christine VANTYGHEM, MD,PhD

Role: PRINCIPAL_INVESTIGATOR

University Hospital, Lille

Locations

Hop Claude Huriez Chu Lille

Lille, , France

Site Status: RECRUITING

Countries

France

Central Contacts

Marie-Christine VANTYGHEM, MD,PhD

Role: CONTACT

mc-vantyghem@chru-lille.fr

320 44 45 17 ext. +33

Facility Contacts

Role: primary

0320445962

Other Identifiers

2017-A03135-48

Identifier Type: OTHER

Identifier Source: secondary_id

2017_36

Identifier Type: -

Identifier Source: org_study_id