Polyendocrinopathies, AutoimmuneAPECED2NCT03800056
Characterization of the Fungal Origins in the Autoimmune Polyendocrinopathy of Type 1 Compared With the Autoimmune Polyendocrinopathies of Type 2
An observational study of Polyendocrinopathies, Autoimmune, run by University Hospital, Lille at 1 site in France.
Trial summary
Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) is an autosomal recessive disease caused by mutations in the autoimmune regulator (AIRE) gene, characterized by the clinical triad of chronic mucocutaneous candidiasis (CMC), hypoparathyroidism, and adrenal insufficiency. Read more about this study
- Who is it for?
- Ages Up to 85 years
- Conditions the study is for
- Polyendocrinopathies, Autoimmune
- How many people
- 7 participants
- Where
- 1 siteFrance
- Study dates
- 23 Apr 2021to 23 Aug 2022
- 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 Up to 85 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patients will be included during their routine follow-up for adrenal insufficiency or hypoparathyroidism in the endocrinology department of the University Hospital of Lille, in adult or pediatric endocrinology.
Who may be able to join
- For both of groups, inclusion criteria are :
- children aged 0 to 17 years old with the consent of both parents, and men and women between the ages of 18 and 85.
- a reasonable delay of 2 weeks after the resolution of an intercurrent infectious episode is to be observed.
- assent of the patient after information adapted to his age and his degree of understanding.
- informed, express and written consent of the patient or of each of the holders of parental authority.
- Inclusion criteria specific to group 1: Patients with a APS type 1 whose molecular diagnosis (mutation of the AIRE gene) has been established in the diagnosis of the disease, regardless of their mycological status (history of mycosis) or the presence of antifungal treatment.
- Inclusion criteria specific to group 2 : Patients with APS type 2: - with adrenal insufficiency for 50% of them. - a delay of two weeks after stopping antifungal or antibiotic treatment in patients is to be respected.
Who cannot join
- impossibility to receive informed information for adults, or impossibility to receive enlightened information for the holders of parental authority if minor subject
- inability to participate in the entire study, refusal to sign the consent.
- people in an emergency situation.
- persons deprived of their liberty.
- pregnant or lactating woman (pregnant women will be offered to participate in the study after delivery).
Trial locations and contacts
1 site in 1 country.
About this study
Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) is an autosomal recessive disease caused by mutations in the autoimmune regulator (AIRE) gene, characterized by the clinical triad of chronic mucocutaneous candidiasis (CMC), hypoparathyroidism, and adrenal insufficiency. CMC can be complicated by systemic candidiasis or oral squamous cell carcinomas (SCCs) and may lead to death. The role of chronic Candida infection in the etiopathogenesis of oral SCC is unclear. Long term use of fluconazole lead to emergence of C. albicans strains with azoles decreased susceptibility. CMC is associated with an impaired Th17 cell response, however, it remains unclear whether decreased serum IL-17 and IL-22 levels are related to a defect in cytokine production or to neutralizing autoantibodies resulting from mutations in the AIRE gene
- Conditions
- Polyendocrinopathies, Autoimmune
- Keywords
- APECED syndrome, autoimmune polyendocrinopathy, chronic mucocutaneous candidiasis
- Medical subject headings
- Polyendocrinopathies, Autoimmune, Candidiasis, Chronic Mucocutaneous
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Group 1 APS 1 | Patients with a APS type 1 whose molecular diagnosis (mutation of the AIRE gene) has been established in the diagnosis of the disease, regardless of their mycological status (history of mycosis) or the presence of antifungal treatment. | |
| Group 2 APS2 | Patients with APS type 2: - with adrenal insufficiency for 50% of them. - a delay of two weeks after stopping antifungal or antibiotic treatment in patients is to be respected. |
What is being measured
The primary outcome is the main question the study is designed to answer.
the frequency of appearance of Candida yeast strains
the frequency of appearance of Candida yeast strains found in mycological samples from both urinary and oral patients.
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 posted10 Jan 2019
- Study start23 Apr 2021
- Primary completion23 Aug 2022
- Study completion23 Aug 2022
Why it stopped: sponsor decision, COVID
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Polyendocrinopathies, AutoimmuneStudies of the same condition, open and under way.
- More trials run by University Hospital, LilleThe sponsor's other registered studies.
- 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
- 7 participants (actual)
Sponsor and investigators
- Lead sponsor
- University Hospital, Lille
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Marie-Christine VANTYGHEM, MD,PhD, Principal investigator, University Hospital, Lille
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03800056
- Sponsor's protocol ID
- 2017_36
- Other IDs
- 2017-A03135-48
- Acronym
- APECED2
- Status last verified
- May 2026
- First submitted
- 8 Jan 2019
- Last updated
- 22 May 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 22 May 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Characterization of the Fungal Origins in the Autoimmune Polyendocrinopathy of Type 1 Compared With the Autoimmune Polyendocrinopathies of Type 2
- ClinicalTrials.gov ID
- NCT03800056
- Acronym / sponsor ID
- APECED2 / 2017_36
- Conditions
- Polyendocrinopathies, Autoimmune
- Keywords
- APECED syndrome, autoimmune polyendocrinopathy, chronic mucocutaneous candidiasis
- Study type
- Observational
- Recruitment status
- TerminatedReason stopped: sponsor decision, COVID
- Enrolment
- 7 participants (actual)
- Lead sponsor
- University Hospital, LilleUniversity, hospital or other
- Study start
- 23 Apr 2021 (actual)
- Primary completion
- 23 Aug 2022 (actual)
- Study completion
- 23 Aug 2022 (actual)
- First posted
- 10 Jan 2019 (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.
Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) is an autosomal recessive disease caused by mutations in the autoimmune regulator (AIRE) gene, characterized by the clinical triad of chronic mucocutaneous candidiasis (CMC), hypoparathyroidism, and adrenal insufficiency. CMC can be complicated by systemic candidiasis or oral squamous cell carcinomas (SCCs) and may lead to death. The role of chronic Candida infection in the etiopathogenesis of oral SCC is unclear. Long term use of fluconazole lead to emergence of C. albicans strains with azoles decreased susceptibility. CMC is associated with an impaired Th17 cell response, however, it remains unclear whether decreased serum IL-17 and IL-22 levels are related to a defect in cytokine production or to neutralizing autoantibodies resulting from mutations in the AIRE gene
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Group 1 APS 1 | – | –Patients with a APS type 1 whose molecular diagnosis (mutation of the AIRE gene) has been established in the diagnosis of the disease, regardless of their mycological status (history of mycosis) or the presence of antifungal treatment. |
| Group 2 APS2 | – | –Patients with APS type 2: - with adrenal insufficiency for 50% of them. - a delay of two weeks after stopping antifungal or antibiotic treatment in patients is to be respected. |
Who may qualify
- Ages
- Up to 85 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients will be included during their routine follow-up for adrenal insufficiency or hypoparathyroidism in the endocrinology department of the University Hospital of Lille, in adult or pediatric endocrinology.
Key inclusion criteria (7 listed)
- For both of groups, inclusion criteria are :
- Inclusion criteria specific to group 1: Patients with a APS type 1 whose molecular diagnosis (mutation of the AIRE gene) has been established in the diagnosis of the disease, regardless of their mycological status (history of mycosis) or the presence of antifungal treatment.
- Inclusion criteria specific to group 2 : Patients with APS type 2: - with adrenal insufficiency for 50% of them. - a delay of two weeks after stopping antifungal or antibiotic treatment in patients is to be respected.
Key exclusion criteria (5 listed)
- impossibility to receive informed information for adults, or impossibility to receive enlightened information for the holders of parental authority if minor subject
- inability to participate in the entire study, refusal to sign the consent.
- people in an emergency situation.
- persons deprived of their liberty.
- pregnant or lactating woman (pregnant women will be offered to participate in the study after delivery).
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
the frequency of appearance of Candida yeast strains
Time frame: Baseline: one session
the frequency of appearance of Candida yeast strains found in mycological samples from both urinary and oral patients.
Results and safety
The study was stopped early (reason given: sponsor decision, COVID). Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 22 May 2026.
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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.
Marie-Christine VANTYGHEM, MD,PhD 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 Polyendocrinopathies, Autoimmune, 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 7 inclusion and 5 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: stopped early, as of the sponsor's last update on 22 May 2026. 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 was stopped early (reason given: sponsor decision, COVID). Results are not available in the source record.
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?
the frequency of appearance of Candida yeast strains (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?
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 22 May 2026.