Evaluation Genotypic, Phenotypic and Prognosis APECED Syndrome (APECED)

• ClinicalTrials.gov Identifier: NCT03751683
• Recruitment Status: Unknown
• First Posted: November 23, 2018
• Last Update Posted: May 12, 2020
• Sponsor: University Hospital, Lille
• Collaborator: Ministry of Health, France
• Information provided by (Responsible Party): University Hospital, Lille

Study Description

Brief Summary:

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

Condition or disease
APECED

Study Design

• Study Type: Observational
• Actual Enrollment: 66 participants
• Observational Model: Cohort
• Time Perspective: Prospective
• Official Title: Evaluation Genotypic, Phenotypic and Prognosis Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED) Syndrome
• Actual Study Start Date: July 30, 2009
• Estimated Primary Completion Date: September 2020
• Estimated Study Completion Date: September 2020

Groups and Cohorts

Outcome Measures

Primary Outcome Measures :

1. allelic frequency of the mutation c.967-979del13 of the AIRE gene [ Time Frame: Baseline: one session ]

Secondary Outcome Measures :

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 ]

Eligibility Criteria

• Ages Eligible for Study: Child, Adult, Older Adult
• Sexes Eligible for Study: All
• Accepts Healthy Volunteers: No
• Sampling Method: Non-Probability Sample

Study Population

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,

Criteria

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:

-

Contacts and Locations

Locations

France

CHRU, Hôpital Claude Huriez

Lille, France

Sponsors and Collaborators

University Hospital, Lille

Ministry of Health, France

Investigators

• Principal Investigator: Emmanuelle Proust-Lemoine, MD; University Hospital, Lille

More Information

• Responsible Party: University Hospital, Lille
• ClinicalTrials.gov Identifier: NCT03751683
• Other Study ID Numbers: 2008_30/0915; 2009-A00197-50 ( Other Identifier: ID-RCB number, ANSM )
• First Posted: November 23, 2018
• Last Update Posted: May 12, 2020
• Last Verified: November 2018

Individual Participant Data (IPD) Sharing Statement:

• Plan to Share IPD: No

• Studies a U.S. FDA-regulated Drug Product: No
• Studies a U.S. FDA-regulated Device Product: No

Additional relevant MeSH terms:

Polyendocrinopathies, Autoimmune; Endocrine System Diseases; Autoimmune Diseases; Immune System Diseases