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Scientists investigate mysterious genetic variants behind rare inflammatory diseases

NCT ID NCT06354322

Knowledge-focused Sponsor: Assistance Publique - Hôpitaux de Paris Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now This study
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
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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 25, 2026 · Last updated Jun 26, 2026 · Updated 1 time

Summary

This study looks at people with autoinflammatory diseases or AA amyloidosis who have genetic changes that are hard to interpret. Researchers want to understand if these changes actually cause the disease. The goal is to improve diagnosis and knowledge, not to test a new treatment.

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 research could help doctors interpret unclear genetic test results, leading to better diagnosis of autoinflammatory diseases.
What could go wrong
This is an observational study, not a treatment trial. It may not directly benefit participants, and the findings might not change current care.

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

About 200 people

The number the study aims to enrol. It can still change while the study runs.

Started

Feb 2025

Expected to finish

Feb 2039

An estimate. End dates often move.

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

Major and minor patients with unclassified autoinflammatory disease or AA amyloidosis of undetermined etiology

Ages

3 to 80 years

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: Inclusion criteria for patients to be studied: * Patients over 18 years of age with the capacity to give express free and informed consent and; * Minor patients under 18 years of age with both parents or legal guardians giving consent; * Patients with unclassified IAD or AA amyloidosis of undetermined etiology; * Patients followed in one of the study departments; * Patients weighing more than 15 kg. Inclusion criteria for control patients: * Patients over 18 years of age with the capacity to give free and informed express consent; * Patients with IAD classified with well-defined international criteria or ; * Patients who have undergone cosmetic surgery or blood donors). Exclusion Criteria: * Patients unable to give express free and informed consent; * Subjects under guardianship, curatorship or safeguard of justice; * Subjects who do not speak French; * Subjects unable to answer questions or express themselves; * Patients weighing less than 15 kg; * Patients without social security coverage

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Conditions

The condition(s) this trial relates to.

AA amyloidosis autoinflammatory syndrome

As listed by the trial registrant

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

Aa amyloidosis Autoinflammatory disease

How to take part

Only the study team decides who joins. These are the ways to reach them.

  1. The places running it

    1 site. The list below names each one and where it is.

  2. The official record

    ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.

    Open the record ↗

  3. A doctor treating you

    A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.

Contacts and locations

Locations

  • Service médecine interne-Hôpital Tenon

    RECRUITING

    Paris, 75020, France

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