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Rare disease genetics unlocked: new study maps APECED mutations

NCT ID NCT03751683

Knowledge-focused Sponsor: University Hospital, Lille Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed This study
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Jun 24, 2026 · Last updated Jun 27, 2026 · Updated 1 time

Summary

This study looked at the genetic makeup of 29 people with APECED syndrome, a rare autoimmune disorder. Researchers aimed to find common gene mutations and link them to symptoms. The goal was to better understand the disease and improve diagnosis.

What this could mean

Our plain-language read of the trial. This is informational only, not medical advice or a prediction.

What this could lead to
If successful, this study could improve how doctors diagnose and predict the course of APECED syndrome based on genetics.
What could go wrong
This is a small, observational study with only 29 participants, so findings may not apply to all patients. It does not test any treatment.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Participants

29 people

The number who actually took part.

Started

Jul 2009

Finished

Jan 2018

Lead sponsor

Other sponsor

The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

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,

Ages

Children (under 18), adults (18 to 64) and older adults (65 and over)

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

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: \-

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Conditions

The condition(s) this trial relates to.

autoimmune polyendocrine syndrome type 1 Polyendocrinopathies, Autoimmune

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

APECED

Contacts and locations

Locations

  • CHRU, Hôpital Claude Huriez

    Lille, France

More trials for these conditions

Other studies related to the condition(s) this trial covers.