Evaluation Genotypic, Phenotypic and Prognosis APECED Syndrome

• Conditions: APECED

• Registration Number: NCT03751683
• Lead Sponsor: University Hospital, Lille

Brief Summary

The objective of the study will define the mutational spectrum in this French cohort, in patients with APECED syndrome genetically authenticated

Detailed Description

Not available

Study Timeline

• Study Start: 2009-07-30
• Status Verified: 2018-11
• Study First Submitted: 2018-11-21
• Study First Submitted QC: 2018-11-21
• Study First Posted: 2018-11-23
• Last Update Submitted: 2020-05-11
• Last Update Posted: 2020-05-12
• Primary Completion: 2020-09
• Study Completion: 2020-09

Recruitment & Eligibility

• Status: UNKNOWN
• Sex: All
• Target Recruitment: 66

Inclusion Criteria

• patients with at least 2 major criteria out of the following 3: hypoparathyroidism of autoimmune origin, adrenal insufficiency of autoimmune origin, chronic cutaneous and mucosal candidiasis.
• patients with only 1 of the 3 major criteria, associated with at least 2 of the following minor criteria: hypergonadotropic hypogonadism of autoimmune origin, atrophic gastritis, malabsorption, autoimmune hepatitis, vitiligo, alopecia, chronic keratoconjunctivitis, hypoplasia of dental enamel.
• patients whose molecular diagnosis has been established or who will be established during the inclusion visit with the genetic sample.

Exclusion Criteria

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
allelic frequency of the mutation c.967-979del13 of the AIRE gene	Baseline: one session

Secondary Outcome Measures

Name	Time	Method
the distribution of lymphocyte subpopulations on the whole cases with APECED syndrome.	Baseline: one session
total number of cases recognized APECED syndrome regardless of the diagnostic criteria used.	Baseline: one session
correlations between the clinical phenotype and the autoantibodies on all cases with APECED syndrome.	Baseline: one session
correlations between the mutations of the AIRE gene and the HLA genotyping on all cases with APECED syndrome.	Baseline: one session
proportion of patients with a molecular diagnosis of positive APECED syndrome, among patients presenting our new diagnostic criteria (a major criterion and at least 2 criteria	Baseline: one session
prevalence of types of antibodies found on APECED syndrome.	Baseline: one session

Trial Locations

Locations (1)

CHRU, Hôpital Claude Huriez; 🇫🇷 Lille, France