APECEDAPECEDNCT03751683
Evaluation Genotypic, Phenotypic and Prognosis APECED Syndrome
An observational study of APECED, run by University Hospital, Lille at 1 site in France.
Trial summary
The objective of the study will define the mutational spectrum in this French cohort, in patients with APECED syndrome genetically authenticated Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- APECED
- How many people
- 29 participants
- Where
- 1 siteFrance
- Study dates
- 30 Jul 2009to 25 Jan 2018
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
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,
Who may be able to join
- 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.
Who cannot join
- -
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Evaluation Genotypic, Phenotypic and Prognosis Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED) Syndrome
The objective of the study will define the mutational spectrum in this French cohort, in patients with APECED syndrome genetically authenticated
- Conditions
- APECED
- Medical subject headings
- Polyendocrinopathies, Autoimmune
What is being measured
The primary outcome is the main question the study is designed to answer.
allelic frequency of the mutation c.967-979del13 of the AIRE gene
Measured: Baseline: one session
Secondary outcomes (6)
total number of cases recognized APECED syndrome regardless of the diagnostic criteria used.
Measured: Baseline: one session
correlations between the clinical phenotype and the autoantibodies on all cases with APECED syndrome.
Measured: Baseline: one session
correlations between the mutations of the AIRE gene and the HLA genotyping on all cases with APECED syndrome.
Measured: Baseline: one session
prevalence of types of antibodies found on APECED syndrome.
Measured: Baseline: one session
the distribution of lymphocyte subpopulations on the whole cases with APECED syndrome.
Measured: 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
Measured: Baseline: one session
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted23 Nov 2018
- Study start30 Jul 2009
- Primary completion25 Jan 2018
- Study completion25 Jan 2018
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for APECEDStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 29 participants (actual)
Sponsor and investigators
- Lead sponsor
- University Hospital, Lille
- Sponsor type
- University, hospital or other
- Collaborators
- Ministry of Health, France
- Responsible party
- Sponsor
- Investigators
- Emmanuelle Proust-Lemoine, MD, Principal investigator, University Hospital, Lille
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03751683
- Sponsor's protocol ID
- 2008_30/0915
- Other IDs
- 2009-A00197-50
- Acronym
- APECED
- Status last verified
- Dec 2025
- First submitted
- 21 Nov 2018
- Last updated
- 26 Dec 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Publications
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.
PubMed 38605470
Study at a glance
From the registry record, last updated by the sponsor on 26 Dec 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Evaluation Genotypic, Phenotypic and Prognosis Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED) Syndrome
- ClinicalTrials.gov ID
- NCT03751683
- Acronym / sponsor ID
- APECED / 2008_30/0915
- Conditions
- APECED
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 29 participants (actual)
- Lead sponsor
- University Hospital, LilleUniversity, hospital or other
- Collaborators
- Ministry of Health, France
- Study start
- 30 Jul 2009 (actual)
- Primary completion
- 25 Jan 2018 (actual)
- Study completion
- 25 Jan 2018 (actual)
- First posted
- 23 Nov 2018 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
The objective of the study will define the mutational spectrum in this French cohort, in patients with APECED syndrome genetically authenticated
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- 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,
Key inclusion criteria (3 listed)
- 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.
Key exclusion criteria (1 listed)
- -
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
allelic frequency of the mutation c.967-979del13 of the AIRE gene
Time frame: Baseline: one session
6 secondary outcomes
total number of cases recognized APECED syndrome regardless of the diagnostic criteria used.
Time frame: Baseline: one session
correlations between the clinical phenotype and the autoantibodies on all cases with APECED syndrome.
Time frame: Baseline: one session
correlations between the mutations of the AIRE gene and the HLA genotyping on all cases with APECED syndrome.
Time frame: Baseline: one session
prevalence of types of antibodies found on APECED syndrome.
Time frame: Baseline: one session
the distribution of lymphocyte subpopulations on the whole cases with APECED syndrome.
Time frame: 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
Time frame: Baseline: one session
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 26 Dec 2025.
- Results publication: PubMed 38605470Humbert 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.
- Individual participant dataSharing planned: No
Related trials for APECED
RecruitingPhase 2
Evaluate the Efficacy and Safety of Ruxolitinib on Hair Regrowth in Patients With Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED)-Associated Alopecia Areata
Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (Apeced), Alopecia Areata
RecruitingPhase 2
Randomized Stepped Wedge Study of Emapalumab in APECED Enteritis
Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy Enteritis
RecruitingObservational study
Natural History of Individuals With Immune System Problems That Lead to Fungal Infections
Chronic Mucocutaneous Candidiasis, Invasive Aspergillosis
RecruitingObservational study
Analysis of the Role of AIRE in Autoimmune Neurological Diseases Associated With Autoantibodies
AIRE Deficiency
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Emmanuelle Proust-Lemoine, MD principal investigator
University Hospital, Lille
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of APECED, run by University Hospital, Lille at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 26 Dec 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
allelic frequency of the mutation c.967-979del13 of the AIRE gene (time frame: Baseline: one session). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT03751683, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 26 Dec 2025.