NCT03751683
Completed
Not Applicable
Evaluation Genotypic, Phenotypic and Prognosis Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED) Syndrome
University Hospital, Lille1 site in 1 country29 target enrollmentJuly 30, 2009
ConditionsAPECED
Overview
- Phase
- Not Applicable
- Intervention
- Not specified
- Conditions
- APECED
- Sponsor
- University Hospital, Lille
- Enrollment
- 29
- Locations
- 1
- Primary Endpoint
- allelic frequency of the mutation c.967-979del13 of the AIRE gene
- Status
- Completed
- Last Updated
- 4 months ago
Overview
Brief Summary
The objective of the study will define the mutational spectrum in this French cohort, in patients with APECED syndrome genetically authenticated
Investigators
Eligibility 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
- Not provided
Outcomes
Primary Outcomes
allelic frequency of the mutation c.967-979del13 of the AIRE gene
Time Frame: Baseline: one session
Secondary Outcomes
- the distribution of lymphocyte subpopulations on the whole cases with APECED syndrome.(Baseline: one session)
- total number of cases recognized APECED syndrome regardless of the diagnostic criteria used.(Baseline: one session)
- correlations between the clinical phenotype and the autoantibodies on all cases with APECED syndrome.(Baseline: one session)
- correlations between the mutations of the AIRE gene and the HLA genotyping on all cases with APECED syndrome.(Baseline: one session)
- 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)
- prevalence of types of antibodies found on APECED syndrome.(Baseline: one session)
Study Sites (1)
Loading locations...
Similar Trials
Completed
Not Applicable
Prognostic Significance of Mutation Type and Chromosome Fragility in Fanconi AnemiaFanconi AnemiaNCT06490510Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau227
Completed
Not Applicable
Utilizing a Multi-gene Testing Approach to Identify Hereditary Pancreatic CancerPancreatic Ductal AdenocarcinomaNCT02790944Ambry Genetics300
Active, not recruiting
Not Applicable
Mutation Screening and Clinical Findings in a Family with Oguchi Disease in TurkeyOguchi night blindnessEye - Diseases / disorders of the eyeACTRN12615001113549Ankara Ulucanlar Eye Education and Research Hospital6
Unknown
Not Applicable
GePheRal: Clinical Validation of the Genotypic Diagnosis of Hiv-1 Resistance to Raltegravir by Parallel Analysis of the Genotype and Phenotype Profiles of ResistanceHIV-1 Infected PatientsFold-change ResistanceResistance MutationsNCT01381328Università Vita-Salute San Raffaele100
Recruiting
Not Applicable
Frequency, Clinical Phenotype and Genetic Analysis of Heritable Kidney Cancer SyndromesRenal Tumor HistologyKidney CancerRenal Cell CarcinomaFamilial Renal CancerHLRCCVHL SyndromeBAP1 Tumor Predisposition SyndromeFLCN Gene MutationALK Gene MutationFH Gene MutationBirt-Hogg-Dube SyndromeMET Gene MutationCutaneous LeiomyomaCutaneous Leiomyomata With Uterine LeiomyomataNCT05534854RenJi Hospital500