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Completed

NCT Number: NCT03751683

Evaluation Genotypic, Phenotypic and Prognosis APECED Syndrome

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

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Key information

Conditions

APECED Autoimmune Diseases Endocrine System Diseases Immune System Diseases Polyendocrinopathies, Autoimmune

Sex eligibility

All sexes

Study type

Observational

Primary location

CHRU, Hôpital Claude Huriez

Lille, France

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

-

Treatment and study plan

Primary outcomes

  1. allelic frequency of the mutation c.967-979del13 of the AIRE gene

    Time frame: Baseline: one session

Secondary outcomes

  1. total number of cases recognized APECED syndrome regardless of the diagnostic criteria used.

    Time frame: Baseline: one session

  2. correlations between the clinical phenotype and the autoantibodies on all cases with APECED syndrome.

    Time frame: Baseline: one session

  3. correlations between the mutations of the AIRE gene and the HLA genotyping on all cases with APECED syndrome.

    Time frame: Baseline: one session

  4. prevalence of types of antibodies found on APECED syndrome.

    Time frame: Baseline: one session

  5. the distribution of lymphocyte subpopulations on the whole cases with APECED syndrome.

    Time frame: Baseline: one session

  6. 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

    Time frame: Baseline: one session

Sponsors and collaborators

Lead sponsor

University Hospital, Lille

Other

Collaborators

  • Ministry of Health, France

Registry information

Official study title

Evaluation Genotypic, Phenotypic and Prognosis Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED) Syndrome

Acronym: APECED

Important dates

Study start
2009
Primary completion
2018
Study completion
2018
First posted
Nov 23, 2018
Registry last updated
Dec 26, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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