Evaluation Genotypic, Phenotypic and Prognosis APECED Syndrome

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

29 participants

Study Classification

OBSERVATIONAL

Study Start Date

2009-07-30

Study Completion Date

2018-01-25

Brief Summary

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

Detailed Description

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Conditions

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APECED

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Eligibility Criteria

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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

\-

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Emmanuelle Proust-Lemoine, MD

Role: PRINCIPAL_INVESTIGATOR

University Hospital, Lille

Locations

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CHRU, Hôpital Claude Huriez

Lille, , France

Site Status

Countries

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France

References

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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.

Reference Type RESULT

PMID: 38605470 (View on PubMed)

Other Identifiers

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2009-A00197-50

Identifier Type: OTHER

Identifier Source: secondary_id

2008_30/0915

Identifier Type: -

Identifier Source: org_study_id