Status:
COMPLETED
Evaluation Genotypic, Phenotypic and Prognosis APECED Syndrome
Lead Sponsor:
University Hospital, Lille
Collaborating Sponsors:
Ministry of Health, France
Conditions:
APECED
Eligibility:
All Genders
Brief Summary
The objective of the study will define the mutational spectrum in this French cohort, in patients with APECED syndrome genetically authenticated
Eligibility Criteria
Inclusion
- 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
- \-
Key Trial Info
Start Date :
July 30 2009
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
January 25 2018
Estimated Enrollment :
29 Patients enrolled
Trial Details
Trial ID
NCT03751683
Start Date
July 30 2009
End Date
January 25 2018
Last Update
December 26 2025
Active Locations (1)
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1
CHRU, Hôpital Claude Huriez
Lille, France