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

NCT03800056 | Recruiting

• 2 other identifiers: 2017_362017-A03135-48
• Study Type: observational
• Target: 30
• Locations: 1 country
• Sites: 1

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

Keywords

APECED syndrome; autoimmune polyendocrinopathy; chronic mucocutaneous candidiasis

Outcome Measures

Primary Outcomes (1)

• the frequency of appearance of Candida yeast strains

  the frequency of appearance of Candida yeast strains found in mycological samples from both urinary and oral patients.

  Baseline: one session

Study Arms (2)

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.

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.

Eligibility Criteria

• Age: Up to 85 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients will be included during their routine follow-up for adrenal insufficiency or hypoparathyroidism in the endocrinology department of the University Hospital of Lille, in adult or pediatric endocrinology.

You may qualify if:

• 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.

You may not qualify if:

• 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).

Sponsors & Collaborators

• University Hospital, Lille: lead

Study Sites (1)

Hop Claude Huriez Chu Lille

Lille, 59037, France

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

* 2x7mL EDTA tubes and 1x7 mL dry tube for the collection of DNA, plasma ans serum. * a urine sample and an oral collection for the characterization of fungal flora

MeSH Terms

Conditions

Polyendocrinopathies, Autoimmune; Candidiasis, Chronic Mucocutaneous

Condition Hierarchy (Ancestors)

Endocrine System Diseases; Autoimmune Diseases; Immune System Diseases; Candidiasis; Mycoses; Bacterial Infections and Mycoses; Infections; Dermatomycoses; Skin Diseases, Infectious; Skin Diseases; Skin and Connective Tissue Diseases; Chronic Disease; Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Study Officials

• Marie-Christine VANTYGHEM, MD,PhD

  University Hospital, Lille

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Marie-Christine VANTYGHEM, MD,PhD

CONTACT

320 44 45 17; mc-vantyghem@chru-lille.fr

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: January 8, 2019
• First Posted: January 10, 2019
• Study Start: April 23, 2021
• Primary Completion: April 1, 2026
• Study Completion: April 1, 2026
• Last Updated: February 16, 2022

Record last verified: 2022-02

Locations

FR (1)