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Characterization of the Fungal Origins in the Autoimmune Polyendocrinopathy of Type 1 Compared With the Autoimmune Polyendocrinopathies of Type 2 (APECED2)

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ClinicalTrials.gov Identifier: NCT03800056
Recruitment Status : Not yet recruiting
First Posted : January 10, 2019
Last Update Posted : July 11, 2019
Sponsor:
Information provided by (Responsible Party):
University Hospital, Lille

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

Condition or disease
Polyendocrinopathies, Autoimmune

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Study Type : Observational
Estimated Enrollment : 30 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Characterization of the Fungal Origins in the Autoimmune Polyendocrinopathy of Type 1 Compared With the Autoimmune Polyendocrinopathies of Type 2
Estimated Study Start Date : December 2019
Estimated Primary Completion Date : December 2020
Estimated Study Completion Date : December 2020


Group/Cohort
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.



Primary Outcome Measures :
  1. the frequency of appearance of Candida yeast strains [ Time Frame: Baseline: one session ]
    the frequency of appearance of Candida yeast strains found in mycological samples from both urinary and oral patients.


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


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Ages Eligible for Study:   up to 85 Years   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
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.
Criteria

Inclusion Criteria:

  1. For both of groups, inclusion criteria are :

    • 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.
  2. Inclusion criteria specific to group 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.
  3. Inclusion criteria specific to group 2 : 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.

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).

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03800056


Contacts
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Contact: Marie-Christine VANTYGHEM, MD,PhD 320 44 45 17 ext +33 mc-vantyghem@chru-lille.fr

Sponsors and Collaborators
University Hospital, Lille
Investigators
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Principal Investigator: Marie-Christine VANTYGHEM, MD,PhD University Hospital, Lille

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Responsible Party: University Hospital, Lille
ClinicalTrials.gov Identifier: NCT03800056     History of Changes
Other Study ID Numbers: 2017_36
2017-A03135-48 ( Other Identifier: ID-RCB number, ANSM )
First Posted: January 10, 2019    Key Record Dates
Last Update Posted: July 11, 2019
Last Verified: January 2019

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by University Hospital, Lille:
APECED syndrome
autoimmune polyendocrinopathy
chronic mucocutaneous candidiasis
Additional relevant MeSH terms:
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Polyendocrinopathies, Autoimmune
Endocrine System Diseases
Autoimmune Diseases
Immune System Diseases