Evaluation Genotypic, Phenotypic and Prognosis APECED Syndrome

APECED Clinical Trial

— APECED  

Official title:

Evaluation Genotypic, Phenotypic and Prognosis Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED) Syndrome

Clinical Trial Details — Status: Active, not recruiting

Administrative data

• NCT number: NCT03751683
• Other study ID #: 2008_30/0915
• Secondary ID: 2009-A00197-50
• Status: Active, not recruiting
• Start date: July 30, 2009
• Est. completion date: September 2020

Study information

• Verified date: November 2018
• Source: University Hospital, Lille
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

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

Recruitment information / eligibility

• Status: Active, not recruiting
• Enrollment: 66
• Est. completion date: September 2020
• Est. primary completion date: September 2020
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

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:

-

Related Conditions & MeSH terms

• APECED
• Polyendocrinopathies, Autoimmune

Locations

Country	Name	City	State
France	CHRU, Hôpital Claude Huriez	Lille

Sponsors (2)

Lead Sponsor	Collaborator
University Hospital, Lille	Ministry of Health, France

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	allelic frequency of the mutation c.967-979del13 of the AIRE gene		Baseline: one session
Secondary	total number of cases recognized APECED syndrome regardless of the diagnostic criteria used.		Baseline: one session
Secondary	correlations between the clinical phenotype and the autoantibodies on all cases with APECED syndrome.		Baseline: one session
Secondary	correlations between the mutations of the AIRE gene and the HLA genotyping on all cases with APECED syndrome.		Baseline: one session
Secondary	prevalence of types of antibodies found on APECED syndrome.		Baseline: one session
Secondary	the distribution of lymphocyte subpopulations on the whole cases with APECED syndrome.		Baseline: one session
Secondary	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