Evaluation Genotypic, Phenotypic and Prognosis Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED) Syndrome
| Registry | NCT03751683, acronym APECED |
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| Status | Completed |
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| Study type | Observational |
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| Enrollment | 29 (Actual) |
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| Sponsor | University Hospital, Lille (Other); collaborators: Ministry of Health, France |
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| Conditions | APECED |
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| Dates | start 2009-07-30, primary completion 2018-01-25, completion 2018-01-25, first posted 2018-11-23, last updated 2025-12-26 |
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| Locations | 1 site in France |
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All trials for APECED
-Summary
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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+Outcome measures
Primary outcomes
- allelic frequency of the mutation c.967-979del13 of the AIRE gene [Baseline: one session]
Secondary outcomes
- 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]
- prevalence of types of antibodies found on APECED syndrome. [Baseline: one session]
- the distribution of lymphocyte subpopulations on the whole 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]
+Eligibility
Sex: All
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:
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+Locations (1)
| Facility | City | Country | Status |
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| CHRU, Hôpital Claude Huriez | Lille | France | |
+Publications
- Results publication: Humbert L, Proust-Lemoine E, Dubucquoi S, Kemp EH, Saugier-Veber P, Fabien N, Raymond-Top I, Cardot-Bauters C, Carel JC, Cartigny M, Chabre O, Chanson P, Delemer B, Do Cao C, Guignat L, Kahn JE, Kerlan V, Lefebvre H, Linglart A, Mallone R, Reynaud R, Sendid B, Souchon PF, Touraine P, Wemeau JL, Vantyghem MC. Lessons From Prospective Longitudinal Follow-up of a French APECED Cohort. J Clin Endocrinol Metab. 2025 Feb 18;110(3):e757-e773. doi: 10.1210/clinem/dgae211. PMID 38605470
+Investigators