Unclassified GENotypes of Autoinflammatory Diseases and AA Amyloidosis (IPHYGENI MAI)

April 3, 2024 updated by: Assistance Publique - Hôpitaux de Paris

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.

Study Overview

Status

Not yet recruiting

Conditions

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 Type

Observational

Enrollment (Estimated)

200

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

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

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Control patients
patients to be studied

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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.
Up to 4 years

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Pathophysiology of Autoinflammatory Diseases
Time Frame: Up to 4 years
To improve the knowledge on the pathophysiology of Autoinflammatory Diseases: to determine the role of new inflammation pathways in AutoInflammatory Diseases
Up to 4 years
Role of other innate immune cells in AutoInflammatory Diseases
Time Frame: Up to 4 years
Evaluate the role of other innate immune cells (neutrophils, mast cells...) and their mediators
Up to 4 years
Improve knowledge of AA amyloidosis
Time Frame: Up to 4 years
Improve knowledge of AA amyloidosis, a complication of autoinflammatory diseases
Up to 4 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Assistance Publique - Hôpitaux de Paris

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Estimated)

May 1, 2024

Primary Completion (Estimated)

June 1, 2024

Study Completion (Estimated)

May 1, 2034

Study Registration Dates

First Submitted

April 3, 2024

First Submitted That Met QC Criteria

April 3, 2024

First Posted (Actual)

April 9, 2024

Study Record Updates

Last Update Posted (Actual)

April 9, 2024

Last Update Submitted That Met QC Criteria

April 3, 2024

Last Verified

April 1, 2024

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • APHP230630

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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