Are Mast Cells Involved in Autoinflammatory Diseases

NCT05292768 | Not Yet Recruiting

• 1 other identifier: APHP210126
• Study Type: observational
• Target: 590
• Locations: 1 country
• Sites: 1

Brief 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.

Conditions

Autoinflammatory Disease; FMF; TRAPS; MKD; Cryopyrin Associated Periodic Syndrome; Haploinsufficiency

Keywords

Autoinflammatory disease; Mast cells; Mast cell activation syndrome

Outcome Measures

Primary Outcomes (1)

• : presence of MCAS

  presence of clinical and biological markers of MCAS

  at inclusion

Secondary Outcomes (4)

• comparison of clinical symptoms of MC activation between groups

  at inclusion

• MC mediators associated to AID

  at inclusion

• MC infiltration in biopsies from AID patients

  at inclusion, retrospectively

• basophilic polynuclear activation in AID patients

  at inclusion, retrospectively

Study Arms (6)

Patients with AID

Control patients with mastocytosis

Control patients with normal digestive biopsy

Control patients with renal biopsy

Control patients with inflammatory disease

Healthy control from healthcare workers

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Inpatients and outpatients wil be recruited in tertiary university centres of the Assitance Publique des Hopitaux de Paris. Healthy controls will be recruited from volunteer healthcare workers in Assitance Publique des Hopitaux de Paris

You may qualify if:

• 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

You may not qualify if:

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

Sponsors & Collaborators

• Assistance Publique - Hôpitaux de Paris: lead
• Institut Imagine: collaborator

Study Sites (1)

Service de Médecine Interne

Paris, 75020, France

Location

Biospecimen

Retention: SAMPLES WITHOUT DNA

Blood and urine samples Digestive, renal or cutaneous biopsies

MeSH Terms

Conditions

Cryopyrin-Associated Periodic Syndromes; Mast Cell Activation Syndrome

Condition Hierarchy (Ancestors)

Hereditary Autoinflammatory Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin Diseases, Genetic; Skin Diseases; Skin and Connective Tissue Diseases; Chronic Inducible Urticaria; Chronic Urticaria; Urticaria; Skin Diseases, Vascular; Cold Urticaria; Hypersensitivity, Immediate; Hypersensitivity; Immune System Diseases; Chronic Disease; Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms; Mast Cell Activation Disorders

Study Officials

• Sophie GEORGIN-LAVIALLE, PU-PH

  Assistance Publique - Hôpitaux de Paris

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Sophie GEORGIN-LAVIALLE, PU-PH

CONTACT

+33 (0)1 56 01 72 04 or 60 77; sophie.georgin-lavialle@aphp.fr

Nabiha Sbeih, MD

CONTACT

+33 (0)1 84 82 74 03; nabiha.sbeih@gmail.com

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: March 14, 2022
• First Posted: March 23, 2022
• Study Start: March 1, 2022
• Primary Completion (Estimated): October 1, 2026
• Study Completion (Estimated): October 1, 2026
• Last Updated: March 23, 2022

Record last verified: 2022-03

Locations

FR (1)