Description Module
The Description Module contains narrative descriptions of the clinical trial, including a brief summary and detailed description. These descriptions provide important information about the study's purpose, methodology, and key details in language accessible to both researchers and the general public.
Description Module path is as follows:
Study -> Protocol Section -> Description Module
Description Module
Ignite Creation Date:
2025-12-24 @ 5:33 PM
Ignite Modification Date:
2025-12-24 @ 5:33 PM
NCT ID:
NCT05292768
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.
Study:
NCT05292768
Study Brief:
Protocol Section:
NCT05292768