Are Mast Cells Involved in Autoinflammatory Diseases
- Conditions
- MKDAutoinflammatory DiseaseFMFTRAPSCryopyrin Associated Periodic SyndromeHaploinsufficiency
- Registration Number
- NCT05292768
- Lead Sponsor
- Assistance Publique - Hôpitaux de Paris
- 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.
- Detailed 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 & Eligibility
- Status
- NOT_YET_RECRUITING
- Sex
- All
- Target Recruitment
- 590
- 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
- Subjects unable to answer questions or express themselves
- Subjects who do not speak French
- Subject deprived of liberty or under legal protection.
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method : presence of MCAS at inclusion presence of clinical and biological markers of MCAS
- Secondary Outcome Measures
Name Time Method MC infiltration in biopsies from AID patients at inclusion, retrospectively 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.
basophilic polynuclear activation in AID patients at inclusion, retrospectively we will study basophilic polynuclear activation from blood samples of AID patients
comparison of clinical symptoms of MC activation between groups at inclusion we will compare clinical symptoms of MC activation between AID patients and other groups
MC mediators associated to AID at inclusion determine which MC mediators are elevated in AID and if they correlate with inflammation
Trial Locations
- Locations (1)
Service de Médecine Interne
🇫🇷Paris, France