AA AmyloidosisIPHYGENI MAINCT06354322
Unclassified GENotypes of Autoinflammatory Diseases and AA Amyloidosis
An observational study of AA Amyloidosis and Autoinflammatory Disease, run by Assistance Publique - Hôpitaux de Paris at 1 site in France.
Trial summary
Patients with autoinflammatory diseases (AID) have recurrent episodes of systemic inflammation accompanied by nonspecific elevation of blood inflammation markers typically absent between attacks. A complication of autoinflammatory diseases is AA amyloidosis, which can lead to renal failure and dialysis. Read more about this study
- Who is it for?
- Ages 3 to 80 years
- Conditions the study is for
- AA Amyloidosis, Autoinflammatory Disease
- How many people
- 200 participants
- Where
- 1 siteFrance
- Study dates
- 26 Feb 2025to Feb 2039
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
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 3 to 80 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Major and minor patients with unclassified autoinflammatory disease or AA amyloidosis of undetermined etiology
Who may be able to join
- 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.
- 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).
Who cannot join
- 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
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
France1 site, 1 recruiting
- Recruiting
Service médecine interne-Hôpital Tenon
Paris, 75020
About this study
Official title: Physiopathological Investigation of Unclassified GENotypes of Autoinflammatory Diseases and AA Amyloidosis
Patients with autoinflammatory diseases (AID) have recurrent episodes of systemic inflammation accompanied by nonspecific elevation of blood inflammation markers typically absent between attacks. A complication of autoinflammatory diseases is AA amyloidosis, which can lead to renal failure and dialysis. Advances in genetic analysis have led to the identification of new autoinflammatory diseases and thus new pathophysiological pathways.
However, genetic analyses are sometimes confronted with results that are difficult to interpret. These are the Variants of Unknown Significance, for which genetic analysis alone does not allow to determine if the genetic mutation is responsible for the symptoms.
genetic analysis sometimes has limitations in the diagnosis of AID which can only be overcome by pathophysiological studies of the variants found.
Read the detailed description
The study aim to explore variants of undetermined significance in major and minor patients with unclassified autoinflammatory disease or AA amyloidosis of undetermined etiology by studying their pathogenicity.
National multicenter research: internal medicine department of Tenon Hospital, pediatric department of Versailles Hospital and pediatric dermatology department of Necker Enfants Malades Hospital in Paris
Samples will be collected at the inclusion visit or at subsequent visits of the patient to the department during a blood draw performed as part of routine care by a registered nurse.
The total volume of the sample will be 24 mL per 6 month period maximum, and will not exceed In case of skin involvement of the auto-inflammatory disease, a skin biopsy may be performed as part of the patient's follow-up care.
- Conditions
- AA Amyloidosis, Autoinflammatory Disease
- Keywords
- Autoinflammatory disease, AA amylosis, Functional explorations, Unclassified genotypes
- Medical subject headings
- AA amyloidosis
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 |
|---|---|---|
| patients to be studied | Not described | |
| Control patients | Not described |
What is being measured
The primary outcome is the main question the study is designed to answer.
Exploration of VUS in AutoInflammatory Diseases
To explore variants of undetermined significance (VUS)in patients with unclassified autoinflammatory disease or AA amyloidosis of undetermined etiology by studying their pathogenicity.
Measured: Up to 4 years
Secondary outcomes (3)
Pathophysiology of Autoinflammatory Diseases
To improve the knowledge on the pathophysiology of Autoinflammatory Diseases: to determine the role of new inflammation pathways in AutoInflammatory Diseases
Measured: Up to 4 years
Role of other innate immune cells in AutoInflammatory Diseases
Evaluate the role of other innate immune cells (neutrophils, mast cells...) and their mediators
Measured: Up to 4 years
Improve knowledge of AA amyloidosis
Improve knowledge of AA amyloidosis, a complication of autoinflammatory diseases
Measured: Up to 4 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted9 Apr 2024
- Study start26 Feb 2025
- Primary completionFeb 2039 (estimated)
- Study completionFeb 2039 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for AA AmyloidosisStudies of the same condition, open and under way.
- More trials run by Assistance Publique - Hôpitaux de ParisThe 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
- Case-control
- Time perspective
- Prospective
- Enrolment
- 200 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Assistance Publique - Hôpitaux de Paris
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06354322
- Sponsor's protocol ID
- APHP230630
- Acronym
- IPHYGENI MAI
- Status last verified
- Aug 2025
- First submitted
- 3 Apr 2024
- Last updated
- 2 Sep 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 2 Sep 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Physiopathological Investigation of Unclassified GENotypes of Autoinflammatory Diseases and AA Amyloidosis
- ClinicalTrials.gov ID
- NCT06354322
- Acronym / sponsor ID
- IPHYGENI MAI / APHP230630
- Conditions
- AA Amyloidosis, Autoinflammatory Disease
- Keywords
- Autoinflammatory disease, AA amylosis, Functional explorations, Unclassified genotypes
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 200 participants (estimated)
- Lead sponsor
- Assistance Publique - Hôpitaux de ParisUniversity, hospital or other
- Study start
- 26 Feb 2025 (actual)
- Primary completion
- Feb 2039 (estimated)
- Study completion
- Feb 2039 (estimated)
- First posted
- 9 Apr 2024 (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.
Patients with autoinflammatory diseases (AID) have recurrent episodes of systemic inflammation accompanied by nonspecific elevation of blood inflammation markers typically absent between attacks. A complication of autoinflammatory diseases is AA amyloidosis, which can lead to renal failure and dialysis. Advances in genetic analysis have led to the identification of new autoinflammatory diseases and thus new pathophysiological pathways.
However, genetic analyses are sometimes confronted with results that are difficult to interpret. These are the Variants of Unknown Significance, for which genetic analysis alone does not allow to determine if the genetic mutation is responsible for the symptoms.
genetic analysis sometimes has limitations in the diagnosis of AID which can only be overcome by pathophysiological studies of the variants found.
Detailed description
The study aim to explore variants of undetermined significance in major and minor patients with unclassified autoinflammatory disease or AA amyloidosis of undetermined etiology by studying their pathogenicity.
National multicenter research: internal medicine department of Tenon Hospital, pediatric department of Versailles Hospital and pediatric dermatology department of Necker Enfants Malades Hospital in Paris
Samples will be collected at the inclusion visit or at subsequent visits of the patient to the department during a blood draw performed as part of routine care by a registered nurse.
The total volume of the sample will be 24 mL per 6 month period maximum, and will not exceed In case of skin involvement of the auto-inflammatory disease, a skin biopsy may be performed as part of the patient's follow-up care.
Study design
- Observational model
- Case-control
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| patients to be studied | – | – |
| Control patients | – | – |
Who may qualify
- Ages
- 3 to 80 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Major and minor patients with unclassified autoinflammatory disease or AA amyloidosis of undetermined etiology
Key inclusion criteria (8 listed)
- 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.
Key exclusion criteria (6 listed)
- 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;
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
Exploration of VUS in AutoInflammatory Diseases
Time frame: Up to 4 years
To explore variants of undetermined significance (VUS)in patients with unclassified autoinflammatory disease or AA amyloidosis of undetermined etiology by studying their pathogenicity.
3 secondary outcomes
Pathophysiology of Autoinflammatory Diseases
Time frame: Up to 4 years
Role of other innate immune cells in AutoInflammatory Diseases
Time frame: Up to 4 years
Improve knowledge of AA amyloidosis
Time frame: Up to 4 years
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 2 Sep 2025.
- Individual participant dataSharing planned: No
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.
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 AA Amyloidosis and Autoinflammatory Disease, run by Assistance Publique - Hôpitaux de Paris 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 8 inclusion and 6 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: looking for participants now, as of the sponsor's last update on 2 Sep 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?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Sophie GEORGIN-LAVIALLE, Professor (00 33 1 56 01 72 04, sophie.georgin-lavialle@aphp.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Exploration of VUS in AutoInflammatory Diseases (time frame: Up to 4 years). 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 2 Sep 2025.