Status:
RECRUITING
Characterization of the Fungal Origins in the Autoimmune Polyendocrinopathy of Type 1 Compared With the Autoimmune Polyendocrinopathies of Type 2
Lead Sponsor:
University Hospital, Lille
Conditions:
Polyendocrinopathies, Autoimmune
Eligibility:
All Genders
Up to 85 years
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 tri...
Eligibility Criteria
Inclusion
- 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.
- 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.
- 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
- 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).
Key Trial Info
Start Date :
April 23 2021
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
April 1 2026
Estimated Enrollment :
30 Patients enrolled
Trial Details
Trial ID
NCT03800056
Start Date
April 23 2021
End Date
April 1 2026
Last Update
February 16 2022
Active Locations (1)
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1
Hop Claude Huriez Chu Lille
Lille, France, 59037