APECED Clinical Trial
— APECEDOfficial title:
Evaluation Genotypic, Phenotypic and Prognosis Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED) Syndrome
Verified date | November 2018 |
Source | University Hospital, Lille |
Contact | n/a |
Is FDA regulated | No |
Health authority | |
Study type | Observational |
The objective of the study will define the mutational spectrum in this French cohort, in patients with APECED syndrome genetically authenticated
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: - |
Country | Name | City | State |
---|---|---|---|
France | CHRU, Hôpital Claude Huriez | Lille |
Lead Sponsor | Collaborator |
---|---|
University Hospital, Lille | Ministry of Health, France |
France,
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 |
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