Are Mast Cells Involved in Autoinflammatory Diseases

NCT ID: NCT05292768

Last Updated: 2022-03-23

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

NOT_YET_RECRUITING

Total Enrollment

590 participants

Study Classification

OBSERVATIONAL

Study Start Date

2022-03-31

Study Completion Date

2026-10-31

Brief Summary

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Autoinflammatory diseases (AID) are caused by innate immunity dysregulation. AID pathophysiology is only partly understood, especially in the case of unclassified AID. Mast cells (MC) are innate immune cells associated with a spectrum of disease between systemic mastocytosis and mast cell activation syndrome. The implication of MC has been shown in cryopyrin associated periodic syndrome (CAPS).Our aim is to evaluate the involvement of MC in AID by assessing clinical and biological signs of MC activation and studying cutaneous and digestive biopsies.

Detailed Description

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Autoinflammatory diseases (AID) are caused by innate immunity dysregulation and characterized by recurrent bouts of fever, frequently associated with digestive, articular or cutaneous symptoms, and sometimes ocular, auricular or neurologic inflammation. The most frequent monogenic AID is Familial Mediterranean fever (FMF).

Despite recent genetic progress AID pathophysiology is only partly understood, especially in the case of unclassified AID.

Mast cells (MC) are innate immune cells associated with a spectrum of disease between systemic mastocytosis and mast cell activation syndrome (MCAS). In MCAS, patients have various symptoms including abdominal pain, bloating, pruritus, flush, anxiety, fatigue, among which some are similar to those seen in patients with AID. The implication of MC has been shown in cryopyrin associated periodic syndrome (CAPS).

Our hypothesis is that MC could be involved in AID pathophysiology,

In order to test this hypothesis, we plan to study :

* clinical MC activation symptoms via a standardized clinical score
* biological MC mediators : by measuring total serum tryptase and histamine in total blood, plasma and urine
* MC infiltration on gastro-intestinal (GI) tract and cutaneous biopsies We will compare clinical MC activation score in AID patients to patients with mastocytosis, with other inflammatory diseases, and with healthy controls.

Conditions

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Autoinflammatory Disease FMF TRAPS MKD Cryopyrin Associated Periodic Syndrome Haploinsufficiency

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

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Patients with AID

No interventions assigned to this group

Control patients with mastocytosis

No interventions assigned to this group

Control patients with normal digestive biopsy

No interventions assigned to this group

Control patients with renal biopsy

No interventions assigned to this group

Control patients with inflammatory disease

No interventions assigned to this group

Healthy control from healthcare workers

No interventions assigned to this group

Eligibility Criteria

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Inclusion Criteria

* Patients \>18 years old with Auto-inflammatory diseases already followed up at the CeRéMAIA (french national reference center for autoinflamamtory diseases and AA amyloidosis) of Tenon hospital and included in the JIRcohorte
* Healthy adult controls, age- and sex-matched with MAI patients, and controls with mastocytosis, an immuno-inflammatory disease.
* Subject affiliated to or entitled to a social security scheme
* Collection of the patient's or healthy control's non-opposition

Exclusion Criteria

* Subjects unable to answer questions or express themselves
* Subjects who do not speak French
* Subject deprived of liberty or under legal protection.
Minimum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Institut Imagine

UNKNOWN

Sponsor Role collaborator

Assistance Publique - Hôpitaux de Paris

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Sophie GEORGIN-LAVIALLE, PU-PH

Role: PRINCIPAL_INVESTIGATOR

Assistance Publique - Hôpitaux de Paris

Locations

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Service de Médecine Interne

Paris, , France

Site Status

Countries

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France

Central Contacts

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Sophie GEORGIN-LAVIALLE, PU-PH

Role: CONTACT

+33 (0)1 56 01 72 04 or 60 77

Nabiha Sbeih, MD

Role: CONTACT

+33 (0)1 84 82 74 03

Other Identifiers

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APHP210126

Identifier Type: -

Identifier Source: org_study_id

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