Evaluation Genotypic, Phenotypic and Prognosis APECED Syndrome
APECED
2 other identifiers
observational
29
1 country
1
Brief Summary
The objective of the study will define the mutational spectrum in this French cohort, in patients with APECED syndrome genetically authenticated
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at below P25 for all trials
Started Jul 2009
Longer than P75 for all trials
1 active site
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
Click on a node to explore related trials.
Study Timeline
Key milestones and dates
Study Start
First participant enrolled
July 30, 2009
CompletedPrimary Completion
Last participant's last visit for primary outcome
January 25, 2018
CompletedStudy Completion
Last participant's last visit for all outcomes
January 25, 2018
CompletedFirst Submitted
Initial submission to the registry
November 21, 2018
CompletedFirst Posted
Study publicly available on registry
November 23, 2018
CompletedDecember 26, 2025
December 1, 2025
8.5 years
November 21, 2018
December 18, 2025
Conditions
Outcome Measures
Primary Outcomes (1)
allelic frequency of the mutation c.967-979del13 of the AIRE gene
Baseline: one session
Secondary Outcomes (6)
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
- +1 more secondary outcomes
Eligibility Criteria
A patient diagnosed or suspected of a genetic disorder of immunity control, known as APECED syndrome (Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy) or autoimmune polyendocrinopathy type 1,
You may qualify if:
- 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.
Contact the study team to confirm eligibility.
Sponsors & Collaborators
- University Hospital, Lillelead
- Ministry of Health, Francecollaborator
Study Sites (1)
CHRU, Hôpital Claude Huriez
Lille, France
Related Publications (1)
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: 38605470RESULT
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Study Officials
- PRINCIPAL INVESTIGATOR
Emmanuelle Proust-Lemoine, MD
University Hospital, Lille
Study Design
- Study Type
- observational
- Observational Model
- COHORT
- Time Perspective
- PROSPECTIVE
- Sponsor Type
- OTHER
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
November 21, 2018
First Posted
November 23, 2018
Study Start
July 30, 2009
Primary Completion
January 25, 2018
Study Completion
January 25, 2018
Last Updated
December 26, 2025
Record last verified: 2025-12
Data Sharing
- IPD Sharing
- Will not share