Are Mast Cells Involved in Autoinflammatory Diseases

FMF Clinical Trial

— INFLAMAST  

Official title:

Are Mast Cells Involved in Autoinflammatory Diseases

Clinical Trial Details — Status: Not yet recruiting

Administrative data

• NCT number: NCT05292768
• Other study ID #: APHP210126
• Status: Not yet recruiting
• Start date: March 2022
• Est. completion date: October 2026

Study information

• Verified date: March 2022
• Source: Assistance Publique - Hôpitaux de Paris
• Contact: Sophie GEORGIN-LAVIALLE, PU-PH
• Phone: +33 (0)1 56 01 72 04 or 60 77
• Email: sophie.georgin-lavialle[@]aphp.fr
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

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.

Description:

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.

Recruitment information / eligibility

• Status: Not yet recruiting
• Enrollment: 590
• Est. completion date: October 2026
• Est. primary completion date: October 2026
• Gender: All
• Age group: 18 Years and older

Eligibility

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.

Related Conditions & MeSH terms

• Autoinflammatory Disease
• Cryopyrin Associated Periodic Syndrome
• Cryopyrin-Associated Periodic Syndromes
• FMF
• TRAPS

Locations

Country	Name	City	State
France	Service de Médecine Interne	Paris

Sponsors (2)

Lead Sponsor	Collaborator
Assistance Publique - Hôpitaux de Paris	Institut Imagine

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	: presence of MCAS	presence of clinical and biological markers of MCAS	at inclusion
Secondary	comparison of clinical symptoms of MC activation between groups	we will compare clinical symptoms of MC activation between AID patients and other groups	at inclusion
Secondary	MC mediators associated to AID	determine which MC mediators are elevated in AID and if they correlate with inflammation	at inclusion
Secondary	MC infiltration in biopsies from AID patients	we will study MC infiltration in digestive, renale and cutaneous biopsies from patients with AID and compare them with biopsies from the other groups from subgroups of patients who had a biopsy performed.	at inclusion, retrospectively
Secondary	basophilic polynuclear activation in AID patients	we will study basophilic polynuclear activation from blood samples of AID patients	at inclusion, retrospectively